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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Abe T, Morita M, Kawai K, Misawa S, Kanai H, Hirose G, Fujita H: Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome. Humangenetik 30:207-215, 1975. [PubMed: 1184006]
    45,XX,t(13q22q).&45,XX and XY,der t(13q22q)mat.&45,XY,der t(13q22q)pat.
    Case E.T. in this report.
    46,XX,-22,+der t(13q22q)pat.&The unusual occurrence of a D1(13) trisomy offspring in a D/G translocation carrier family is reported here.
    Aberration: Robertsonian translocations
    No band
  • Alfi O S, Miller R C, Greene A E, Coriell L L: "A (13;22) Robertsonian translocation. 45 chromosomes. Repository identification No. GM-392." Cytogenet. Cell Genet. 15:55-56, 1975. [PubMed: 1058758]
    45,XX,t(13q22q).
    Aberration: Robertsonian translocations
    No band
  • Antonarakis S E, Blouin J L, Maher J, Avramopoulos D, Thomas G, Talbot C C, Jr: "Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14." AJHG 52:1145-1152, 1993. [PMC free article: PMC1682257] [PubMed: 8503447]
    Family TF.
    mos45,XX,rob(13q14q)(95 cells)/46,XX,-13,+rob(13q14q)(5 cells)-blood.&45,XX,rob(13q14q)(100 cells)-fibroblasts.
    There were several abnormal features in this 9 year-old patient.
    Aberration: Robertsonian translocations
    Chromosomal Aneuploidy: 14q+
    Index Terms: Uniparental disomy
    No band
  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 4313 in this report.
    45,XX,-13,-18,+t(13q18q).
    Aberration: Whole-arm translocations
    No band
  • Avirachan S, Kajii T: Double heteroploidy, 46,XY,t(13q14q),+18, in a spontaneous abortus. Clin. Genet. 4:101-104, 1973. [PubMed: 4730938]
    46,XY,-13,-14,+t(13q14q)+18.
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Bailey S M, Goodwin E H, Meyne J, Cornforth M N.: CO-FISH reveals inversions associated with isochromosome formation. Mutagenesis 11:139-144, 1996. [PubMed: 8671729]
    46,XX,r(13)/46,XX,i(13)(qter->cen->qter).
    Aberration: IC,RI
    Index Terms: CO-FISH
    No band
  • Bhasin M K, Foerster W, Fuhrmann W: A cytogenetic study of recurrent abortion. Humangenetik 18:139-148, 1973. [PubMed: 4578384]
    Case 1 (J. No. 301-71) in this report.
    45,XX,t(13q15q).
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Borgaonkar D S, Lutz J B, Leddy A: Unpublished data, 1977.
    45,XX,-13,-14,-18,+t(13q14q),+r(18).&Both parents have normal karyotypes.
    Aberration: Double aberration
    No band
  • Borgaonkar D S: Unpublished observations, 1974.
    45,XX,t(13q15q).
    Subject No. 1633 in this laboratory.
    45,XY,der(13q15q)mat.
    Aberration: Robertsonian translocations
    No band
  • Brasch J M, Smyth D R: Absence of silver bands in human Robertsonian translocation chromosomes. Cytogenet. Cell Genet. 24:122-125, 1979. [PubMed: 477405]
    Aberration: Robertsonian translocations
    No band
  • Candy D C A, Hayward A R, Hughes D T, Layward L, Soothill J F: Four families with immunodeficiency and chromosome abnormalities. Arch. Dis. Childhood 54:518-523, 1979. [PMC free article: PMC1545485] [PubMed: 314782]
    45,XY,t(13q18q).
    Aberration: Whole-arm translocations
    No band
  • Caspersson T, Hulten M A, Lindsten J, Therkelsen A J, Zech L: Identification of different Robertsonian translocations in man by quinacrine mustard fluorescence analysis. Hereditas 67:213-220, 1971. [PubMed: 4142007]
    Case 3 in this report.
    45,XY,t(13q21q).
    Cases 5 and 7 in this report.
    45,XY,t(13q14q).
    Aberration: Robertsonian translocations
    No band
  • Cavenee W K, Leach R, Mohandas T K, Pearson P L, White R: Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13. AJHG 36:10-24, 1984. [PMC free article: PMC1684373] [PubMed: 6320640]
    No band
  • Chandley A C, Christie S, Fletcher J M, Frackiewicz A, Jacobs P A: Translocation heterozygosity and associated subfertility in man. Cytogenetics 11:516-533, 1972. [PubMed: 4658180]
    Patient J.F., M. R. C. Registry No. K56-183-69 in this report.
    45,XY,t(13q14q).&Oligospermia was reported in this patient.
    Aberration: Robertsonian translocations
    Index Terms: Oligospermia,Oligozoospermia,Sterility ... male
    No band
  • Chandley A C, Fletcher J M: Centromere staining at meiosis in man. Humangenetik 18:247-252, 1973. [PubMed: 4124201]
    M. R. C. Registry No. K19-99-65 in this report.
    45,XY,t(13q14q).
    Aberration: Robertsonian translocations
    No band
  • Cheung S W, Sun L, Featherstone T: Molecular cytogenetic evidence to characterize breakpoint regions in Robertsonian translocations. Cytogenet. Cell Genet. 54:97-102, 1990. [PubMed: 2265566]
    Aberration: Robertsonian translocations
    Index Terms: Alphoid DNA
    No band
  • Chrz R, Kozak J, Malkova J: Densitometric study of G bands of human metaphase chromosomes. Humangenetik 18:149-154, 1973. [PubMed: 4720041]
    t(13q14q).
    Aberration: Robertsonian translocations
    No band
  • Coco R, Penchaszadeh V B: Frequency of chromosomal aberrations in 131 patients with multiple congenital malformations and mental retardation. J. Ped. 89:325 (Abstr.), 1976.
    46,XY,t(13;18).
    Aberration: Simple translocation
    No band
  • Crolla J A, Dennis N R, Jacobs P A: A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J. Med. Genet. 29:699-703, 1992. [PMC free article: PMC1016126] [PubMed: 1433228]
    Case 4.
    47,XY,+mar(13/21)mat.
    Case 5.
    mos46,XY/47,XY,+mar(13/21)de novo.
    Case 6.
    47,XX,+mar(13/21)de novo.
    Attempt has been made to correlate the physical findings with the chromosomal abnormality.
    No band
  • Dryja T P, Morton C C: Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization. Hum. Genet. 71:192-195, 1985. [PubMed: 4065891]
    No band
  • Dunham A, Matthews L H, Burton J, Ashurst J L, Howe K L, Ashcroft K J, Beare D M, Burford D C, Hunt S E, Griffiths-Jones S, Jones M C, Keenan S J, Oliver K, Scott C E, Ainscough R, Almeida J P, Ambrose K D, Andrews D T, Ashwell R I S, Babbage A K, Bagguley C L, Bailey J, Bannerjee R, Barlow K F, Bates K, Beasley H, Bird C P, Bray-Allen S, Brown A J, Brown J Y, Burrill W, Carder C, Carter N P, Chapman J C, Clamp M P, Clark S Y, Clarke G, Clee C M, Clegg S C M, Cobley V, Collins J E, Corby N, Coville G J, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl M E, Ellington A G, Faulkner L, Frankish A G, Frankland J, French L, Garner P, Garnett J, Gilbert J G R, Gilson C J, Ghori J, Grafham D V, Gribble S M, Griffiths C, Hall R E, Hammond S, Harley J L, Hart E A, Heath P D, Howden P J, Huckle E J, Hunt P J, Hunt A R, Johnson C, Johnson D, Kay M, Kimberley A M, King A, Laird G K, Langford C J, Lawlor S, Leongamornlert D A, lloyd D M, Lloyd C, Loveland J E, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren S J, McMurray A, Milne S, Moore M J F, Nickerson T, Palmer S A, Pearce A V, Peck A I, Pelan S, Phillimore B, Porter K M, Rice C M, Searle S, Sehra H K, Shownkeen R, Skuce C D, Smith M, Steward C A, Sycamore N, Tester J, Thomas D W, Tracey A, Tromans A, Tubby B, Wall M, Wallis J M, West A P, Whitehead S L, Willey D L, Wilming L, Wray P W, Wright M W, Young L, Coulson A, Durbin R, Hubbard T, Sulston J E, Beck S, Bentley D R, Rogers J, Ross M T.: The DNA sequence and analysis of human chromosome 13. Nature 428:522-528, 2004. [PMC free article: PMC2665288] [PubMed: 15057823]
    Index Terms: Chromosome 13 DNA Sequence
  • Dutrillaux B: Chromosomal aspects of human male sterility. Nobel Symposium 23:205-208, 1972. [PubMed: 4804750]
    45,XY,t(13q14q).
    Aberration: Robertsonian translocations
    Index Terms: Sterility ... male
    No band
  • Emberger J M, Negre C, Lafon R: Mosaic trisomy 13 with an isochromosome: 46,XX/46,XX,13-,13qi. Ann. Genet. 15:111-114, 1972. [PubMed: 4537722]
    46,XX/46,XX,-13,i(13q).
    Aberration: Isochromosome
    Index Terms: Patau syndrome (trisomy 13)
    No band
  • Fernhoff P M, Singh D N, Hanson J W, Trusler S, Dumont C R, Chen A T L: Association of D/D translocations with fetal wastage and aneuploidy. A report of four families. J. Med. Genet. 13:389-393, 1976. [PMC free article: PMC1013445] [PubMed: 137318]
    Four families with t(13q14q) chromosome segregating are described. One proband had an unusual 46,XY,-13,-14,+t(13q14q),+21 karyotype.
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Fraccaro M, Maraschio P, Pasquali F, Tiepolo L, Zuffardi O, Giarola A: Male infertility and 13/14 translocation. Lancet 1:488, 1973. [PubMed: 4120401]
    45,XY,t(13q14q).
    Aberration: Robertsonian translocations
    Index Terms: Sterility ... male
    No band
  • Gabriel-Robez O, Rumpler Y.: The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. II.- Robertsonian and reciprocal translocations. A European collaborative study. Ann. Genet. 39:17-25, 1996. [PubMed: 9297439]
    Two cases, 6 and 7 in table 1:
    45,XY,T(13q;14q).
    Aberration: Robertsonian translocations
    Index Terms: Pachytene ... chromosomes
    No band
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    45,XX or XY,t(13q14q).
    Aberration: Robertsonian translocations
    Index Terms: Pregnancy ... loss
    No band
  • Gilgenkrantz S, Groupe de Cytogeneticiens Francais: Robertsonian translocations and abnormal phenotypes. Ann. Genet. 32:5-9, 1989. [PubMed: 2665630]
    t(13q14q).
    Data on 21 cases are reviewed.
    Aberration: Robertsonian translocations
    No band
  • Gosden J R, Gosden C M, Lawrie S S, Mitchell A R: The fate of DNA satellites I, II, III and ribosomal DNA in a familial dicentric chromosome 13:14. Hum. Genet. 41:131-141, 1978. [PubMed: 640652]
    An interesting study in which the translocation chromosome showed a loss of sequences complementary to all three satellite DNAs, located in the short arms of the acrocentric chromosomes, indicating their presence as interspersed blocks. In one instance a chromosome 22 had extra ribosomal DNA and satellite DNAs I, II and III suggesting a compensatory mechanism for the loss due to rearrangements. The relationships of these findings to reproductive fitness is discussed.
    Aberration: Dicentric chromosome
    No band
  • Guanti G, Zuffardi O, Tiepolo L: rDNA levels in fertile male carriers of Robertsonian translocations. Cytogenet. Cell Genet. 27:162-167, 1980. [PubMed: 7398371]
    The mean rDNA were not suggestive that the loss of ribosomal cistrons was related -> the infertility.
    Aberration: Robertsonian translocations
    Index Terms: Sterility ... male
    No band
  • Gul D, Sayli B S: "Klinefelter syndrome associated with 13/14 translocation abnormality 46,XXY,t(13q;14q)." Urol. Int. 52:166-168, 1994. [PubMed: 8203057]
    Patient E.O.
    46,XXY,-13,-14,+t(13q;14q).
    The young man was referred because of hypogonadism and poor facial hair growth.
    Aberration: Robertsonian translocations
    Index Terms: Klinefelter syndrome
    No band
  • Harris D J, Hankins L, Begleiter M L: Reproductive risk of t(13q14q) carriers: case report and review. AJMG 3:175-181, 1979. [PubMed: 157697]
    The proband (SEB 140476) in this report.
    46,XY,-13,-14,+der t(13q14q)mat +21.&45,XX and XY,t(13q14q)mat and pat.
    Aberration: Robertsonian translocations
    No band
  • Hata A, Suzuki Y, Kuroki Y: Down syndrome with 45 chromosomes. Jpn. J. Hum. Genet. 28:209-213, 1983. [PubMed: 6231395]
    45,XY,-13,-14,-21,+t(13q14q),+t(21q21q).
    Aberration: Robertsonian translocations
    Index Terms: Down syndrome (Trisomy 21)
    No band
  • Hou J W, Liu C H, Wang T R, Zhu H M, Jiang S, Sciorra L J, Lee M L.: Mosaic ring chromosome 13 analyzed by fluorescence in situ hybridization: report of a case. J. Formos. Med. Assoc. 91: 1108-1111, 1995. [PubMed: 1363214]
    mos46,XY(35%)/46,XY,r(13)(61%)/46,XY,dic r(13)(4%).
    The 5 year old boy with developmental retardation, bilateral cataracts, hearing impairment, microcephaly and hypospadia was evaluated.
    Alpha-satellite D21Z1/D13Z1 and telomere probes from Oncor were used
    Aberration: Ring chromosome
    No band
  • Ing P S, Smith S D: "Cytogenetic studies of a patient with mosaicism of isochromosome 13q and a dicentric (Y;13) translocation showing differential centromeric activity." Clin. Genet. 24:194-199, 1983. [PubMed: 6627723]
    46,XY,-13,+i(13q)/45,X,-13,+psu dic(13)t(13;Y)/45,X,-13,+psu dic(Y)t(Y;13).
    Patient D.S.000074, was studied in 1976 in Miami, Florida.
    Aberration: ST,IC
    No band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    M. R. C. Registry Nos. K-13-86-64, K16-99-65, K18-121-65, K49-162-65, K67-209-66, K32-13-67, K37-205-67, K41-243-67, K44-7-68, K123-131-68, K75-58-70, K139-247-70, K196-47-72 in this report.
    45,XY,t(13q14q).
    M. R. C. Registry Nos. K7-80-62, K29-167-66, K46-105-68, K52-226-68, K56-42-69, K93-277-69, K132-270-70, K183-109-71, K204-151-72, K206-158-72 in this report.
    45,XX,t(13q14q).
    M. R. C. Registry No. K185-229-71 in this report.
    45,XX,t(13q22q).
    M. R. C. Registry No. K190-281-71 in this report.
    45,XY,t(13q22q).
    M. R. C. Registry No. K70-212-68 in this report.
    46,XX,-13,+t(13q21q).
    Aberration: Robertsonian translocations
    No band
  • Jalal S M, Martin J A, Benjamin T R, Kukolich M K, Townsend-Parcham J K: Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring. Ann. Genet. 33:173-175, 1990. [PubMed: 2288463]
    Patient A.M.
    46,XX,t(13q13q)(34%)/46,XX,-13,+r(13)(66%)de novo.
    Patient with MCA suvived for about 3 months.
    Aberration: TR,RI
    No band
  • Johannisson R, Schwinger E, Wolff H H, vom Ende V, Lohrs U: "The effect of 13;14 Robertsonian translocations on germ-cell differentiation in infertile males." Cytogenet. Cell Genet. 63:151-155, 1993. [PubMed: 8485990]
    Cases 1 (U.W.) and 2 (N.P.).
    45,XY,t(13q14q).
    Aberration: Robertsonian translocations
    Index Terms: Infertile,Robertsonian translocations
    No band
  • Kistenmacher M L, DiGeorge A M, Punnett H H: The association of autoimmune disorders with 18p- syndrome. AJHG 26:49A, 1974.
    45,XX,-13,-18,+t(13q18q).
    Aberration: Simple translocation
    Index Terms: Autoimmune disorders
    No band
  • Kohn G, Ornoy A, Ben-tsur Z, Sadovsky E, Cohen M M: Successive spontaneous abortions with diverse chromosomal aberrations in human translocation heterozygote. Teratology 12:283-290, 1975. [PubMed: 1198335]
    45,XX,(13q14q).&An abortus had the following karyotype: 47,XX,+16. Another abortus had the following karyotype. 47,XY,+t(DqDq).
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Kovaleva N V, Shaffer L G.: Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes. AJMG DOI=10.1002/ajmg.a.20156, 2003. [PubMed: 12910502]
    Shaffer L G, Jackson-Cook C K, Stasiowski B A, Spence J E, Brown J A: Parental origin determination in thiry de novo Robertsonian translocations. AJMG 43:957-963, 1992. [PubMed: 1357969]
    rob(13q14q), (13q15q), (13q21q).
    More maternally derived de novo translocations (26/30) were found.
    Aberration: Robertsonian translocations
    No band
  • Krajinovic M, Ivanovic K, Mestroni L, Diklic V, Nikolis J: Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner''s syndrome. J. Med. Genet. 31:255-256, 1994. [PMC free article: PMC1049756] [PubMed: 8014980]
    44,X,rob(13q14q)pat.
    The single X chromosome was also paternally derived.
    Aberration: Robertsonian translocations
    Index Terms: Turner syndrome
    No band
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    45,XY,rob(13;14)pat.&"45,XX,rob(13;15)de novo."&46,XX,-13,+rob(13q13q).
    Aberration: Robertsonian translocations
    No band
  • Lazjuk G I, Lurie I W, Gurevich D B: Genetics of Patau syndrome (Analysis of 59 cases). Cytology & Genetics 6:453-454, 1984. [PubMed: 6523569]
    A mother with the Robertsonian translocation had three babies with Patau syndrome.
    45,XX,t(13q13q)
    Aberration: Robertsonian translocations
    Index Terms: Patau syndrome (trisomy 13)
    No band
  • Lieber E, Shah P: Two Robertsonian translocations in a boy with mental retardation. J. Med. Genet. 19:229-232, 1982. [PMC free article: PMC1048874] [PubMed: 7108921]
    46,XY/46,XY,-21,+t(21q21q)/45,XY,-13,-21,+t(13q21q).
    Aberration: Double translocation
    No band
  • Liehr T, Ziegler M, Starke H, Heller A, Kuechler A, Kittner G, Beensen V, Seidel J, Habler H, Musebeck J, Clausen U.: Conspicuous GTG-banding results of the centromere-near region can be caused by alphoid DNA-heteromorphism. Clin. Genet. 64:166-167, 2003. [PubMed: 12859415]
    Liehr T.: Personal communication, 2003.
    Case 3:
    46,XX,var (13p-),var dup cen/sat(13).ish (cep 13/21++)
    The 10 year-old was being evaluted because of growth retardation and suspicion of Turner syndrome.
    Family studies were not done as per Dr. T. Liehr, July 21.
    Aberration: MA,DU
    Index Terms: Alphoid DNA heteromorphism
  • Luciani J M, Guichaoua M R, Mattei A, Morazzani M R: "Pachytene analysis of a man with 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle." Cytogenet. Cell Genet. 38:14-22, 1984. [PubMed: 6200272]
    Aberration: Robertsonian translocations
    Index Terms: Sterility ... male
    No band
  • Magnelli N C: Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects. Madison blind study IV. Clin. Genet. 9:169-182, 1976. [PubMed: 1248176]
    46,XX,t(13p16p)(13q16q).&46,XX,der t(13p16p)(13q16q)mat.
    Case M99 (DJ 121160) in this report.
    47,XY,+der t(13p16p)mat.
    Aberration: Whole-arm translocations
    No band
  • Marcais B, Bellis M, Gerard A, Pages M, Boublik Y, Roizes G: Structural organization and polymorphism of the alpha satellite DNA sequences of chromosomes 13 and 21 as revealed by pulse field gel electrophoresis. Hum. Genet. 86:311-316, 1991. [PubMed: 1997388]
    30 unrelated individuals were studied.
    Aberration: Marker chromosome
    Index Terms: Alphoid DNA
    No band
  • Martinez-Castro P, Ramos M C, Rey J A, Benitez J, Sanchez-Cascos A: Homozygosity for a Robertsonian translocation (13q14q) in three offspring of heterozygous parents. Cytogenet. Cell Genet. 38:310-312, 1984. [PubMed: 6510025]
    44,XX or XY,t(13q14q),t(13q14q).
    Aberration: Robertsonian translocations
    No band
  • Martin R H: "Cytogenetic analysis of sperm from a male heterozygous for a 13;14 Robertsonian translocation." Hum. Genet. 80:357-361, 1988. [PubMed: 3198113]
    45,XX or XY,der t(13q14q)pat.&46,XX,-14,+der t(13q14q)mat.
    The man was 23 years old. Frequency of unbalanced sperm was 27%, chromosomally normal 36%, and balanced 38%.
    Aberration: Robertsonian translocations
    Index Terms: Sperm ... analysis
    No band
  • Matsuda T, Nonomura M, Yamamoto S, Hayashi K, Yoshida O: Sperm morphology in subfertile carriers of autosomal translocations. Int. J. Fertil. 36:178-182, 1991. [PubMed: 1678374]
    Patient Nos. 1 and 3.
    45,XY,t(13q14q).
    Patients were 35 and 36 years old respectively.
    Patient No. 2.
    mos45,XY,t(13q15q)/46,XY.
    Patient was 31 years old.
    Aberration: Robertsonian translocations
    Index Terms: Sperm ... morphology
    No band
  • Mattei M G, Mattei J F, Ayme S, Giraud F: Dicentric Robertsonian translocations in man. 17 cases studied by R, C, and N banding. Hum. Genet. 50:33-38, 1979. [PubMed: 468258]
    t(13;14),t(13;15),t(13;21),t(14;15),t(14;21) were dicentric and t(14;22) was monocentric.
    Aberration: Robertsonian translocations
    No band
  • Mehes K, Bajnoczky K, Buhler E M, Kosztolanyi G: "Late separating D/D fusions in subjects with ""balanced"" translocation." Ann. Genet. 34:19-21, 1991. [PubMed: 1952785]
    Four subjects with Robertsonian translocations were studied.
    t(13q14q); t(13q14q).
    The centromere separation index studies indicated that these chromosomes separate late in mitosis.
    Aberration: Robertsonian translocations
    Index Terms: Centromere ... separation index
    No band
  • Micic M D, Nikolis J G, Micic S R: 13/14 translocation in a man with reproductive failure. Mitotic and meiotic studies. Hum. Genet. 55:137-139, 1980. [PubMed: 7450751]
    Aberration: Robertsonian translocations
    No band
  • Moedjono S J, Funderburk S J, Sparkes R S: "18p- syndrome resulting from translocation (13q;18q) in a mildly affected adult male." J. Med. Genet. 16:399-402, 1979. [PMC free article: PMC1012619] [PubMed: 513088]
    A 27 year old male with short stature, borderline mental deficiency, strabismus, and a short fourth metacarpal is presented in this report.
    45,XY,-13,-18,+t(13;18)(13qter -> cen -> 18qter).
    Aberration: Whole-arm translocations
    Index Terms: Hand ... short 4th metacarpal,Stature ... short (low),Strabismus
    No band
  • Mori M A, Huertas H, Pinel I, Giralt P, Martinez-Frias M L: Trisomy 13 in the child of two carriers of a 13/15 translocation. AJMG 20:17-20, 1985. [PubMed: 3970069]
    Proband''s parents were 4th cousins.
    Parents: 45,XX and XY,dic(13;15)(p11;p11).&"Proband: 46,XX,-15,+dic(13;15)(p11;p11)."
    Aberration: Robertsonian translocations
    Index Terms: Patau syndrome (trisomy 13)
    No band
  • Navarro J, Vidal F, Benet J, Templado C, Marina S, Egozcue J: "XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation." Hum. Reprod. 6:376-381, 1991. [PubMed: 1955545]
    Aberration: Robertsonian translocations
    Index Terms: Synapsis
    No band
  • Newton M S, Cunningham C, Jacobs P A, Price W H, Fraser I A: Chromosome survey of a hospital for the mentally subnormal. Part 2: Autosome abnormalities. Clin. Genet. 3:226-248, 1972. [PubMed: 4262353]
    M. R. C. Registry No. K67-209-66 in this report.
    46,XY,-13,-14,+t(13q14q),+21.
    Aberration: Robertsonian translocations
    No band
  • Nielsen J, Hreidarsson A B, Christensen K R: D-D translocations in patients with mental illness. Hereditas 75:131-135, 1973. [PubMed: 4130422]
    Nielsen J, Rasmussen K: Autosomal reciprocal translocations and 13/14 translocations: A population study. Clin. Genet. 10:161-177, 1976. [PubMed: 786515]
    45,XX and XY,t(13q14q).&Several families with t(13q14q) translocations are reported.
    Aberration: Robertsonian translocations
    No band
  • Niermeijer M F, Sachs E S, Jahodova M, Tichelaar-Klepper C, Kleijer W J, Galjaard H: Prenatal diagnosis of genetic disorders. J. Med. Genet. 13:182-194, 1976. [PMC free article: PMC1013391] [PubMed: 58990]
    45,XX,t(13q22q).&46,XY,-13,+der(22)t(13q22q)mat.&This male child (with trisomy 22) weighing 1950 g. was born in the thirty-seventh week and died on the second day of life. Malformations observed were: cleft palate, antimongoloid eye slant, bilateral iris colobomata, broad nasal bridge, dextrocardia, ventricular septal defect, transposition of the aorta, anal atresia with rectourethral fistula, hypospadia, undescended testes, and a small cystic left kidney.
    Aberration: Robertsonian translocations
    Index Terms: Anus ... anal atresia,Atresia ... anal,Cleft lip/palate,Coloboma,Dextrocardia,Eye ... antimongoloid,Hypospadias,Kidney ... malformations,Recto-urethral fistula,Testes ... undescended (cryptorchidism)
    No band
  • Nowell P C, Besa E, Emanuel B S, Pathak S, Finan J: "Two adult siblings with thrombocytopenia and a familial 13;14 translocation." Cancer Genet. Cytogenet. 11:169-174, 1984. [PubMed: 6692337]
    Individual K.B., I-1:
    t(13q14q).
    Cases 1, E.S. II-2; and 2, R.W. II-3:
    45,XX and XY,t(13q14q)mat and pat.
    Aberration: Robertsonian translocations
    Index Terms: Thrombocytopenia
    No band
  • Oka S, Nakagome Y, Teramura F, Hosono F, Katumata M: Trisomy/partial monosomy mosaicism of No. 13 pair 46,XX,-13,+rob(13q13q)/46,XX,r(13)(p11q34). Jpn. J. Hum. Genet. 22:73-78, 1977. [PubMed: 604564]
    Patient, a mentally retarded and malformed girl, died at 4 months of age.
    Aberration: RI,TR
    Index Terms: Patau syndrome (trisomy 13)
    No band
  • Palmer C G, Conneally P M, Christian J C: Translocations of D chromosomes in two families t(13q14q) and t(13q14q)+t(13p14p). J. Med. Genet. 6:166-173, 1969. [PMC free article: PMC1468862] [PubMed: 4240722]
    Family 1156 in this report.
    45,XY,t(13q14q)/46,XY,t(13q14q)t(13p14p).&46,XY,t(13q14q)t(13p14p).
    Aberration: Robertsonian translocations
    No band
  • Palmer C G, Morris J L, Thompson B H, Nance W E: Fertility and 13/14 translocation. Lancet 1:728, 1973. [PubMed: 4120532]
    45,XX and XY,t(13q14q).
    Aberration: Robertsonian translocations
    No band
  • Palmer R W, Hulten M A: Chiasma derived genetic maps and recombination fractions: chromosome 13 with reference to the proposed 13q14 retinoblastoma locus. J. Med. Genet. 19:125-129, 1982. [PMC free article: PMC1048842] [PubMed: 6951998]
    Index Terms: Retinoblastoma
    No band
  • Parslow M I, Gardner R J M, Veale A M O: Giemsa banding in the t(13q13q) carrier mother of a translocation trisomy 13 abortus. Humangenetik 18:183-184, 1973. [PubMed: 4124239]
    45,XX,t(13q13q).&46,XX,-13,+der t(13q13q)mat.
    Aberration: Robertsonian translocations
    Index Terms: Patau syndrome (trisomy 13)
    No band
  • Pellestor F, Girardet A, Andreo B, Charlieu J P.: A polymorphic alpha satellite sequence specific for human chromosome 13 detected by oligonucleotide primed in situ labelling (PRINS). Hum. Genet. 94:346-348, 1994. [PubMed: 7927326]
    Aberration: Marker chromosome
    No band
  • Pellestor F, Girardet A, Lefort G, Andreo B, Charlieu J P.: Use of the primed in situ labelling (PRINS) technique for a rapid detection of chromosomes 13, 16, 18, 21, X and Y. Hum. Genet. 95:12-17, 1995. [PubMed: 7814017]
    Aberration: TR,RI
    Index Terms: PRINS
    No band
  • Perez-Castillo A, Abrisqueta J A: Patau''s syndrome and 13q21q translocation. Hum. Genet. 42:327-331, 1978. [PubMed: 669714]
    46,XYq+,-21,+t(13q21q),15ps+,22ps+.
    Aberration: Robertsonian translocations
    Index Terms: Patau syndrome (trisomy 13)
    No band
  • Phelan M C, Stevenson R E, Taylor H A: Mosaicism for two different D group translocations in a child with multiple abnormalities. Proc. Greenwood Genet. Ctr. 2:52-54, 1983.
    mos45,XY,-13,-14,+t(13q14q),inv(9)(p11q13)mat/46,XY,-13,+t(13q14q),inv(9)(p11q13)mat.
    Aberration: Robertsonian translocations
    No band
  • Plymate S R, Brenner W J, Paulsen C A: The association of D-group chromosomal translocations and defective spermatogenesis. Fert. Ster. 27:139-144, 1976. [PubMed: 1248660]
    Case J.M. in this report.
    45,XY,(13q14q).
    Cases S.M. and G.M. in this report.
    45,XY,der(13q14q)pat.&Even in the father, a marked increase in duplicate and immature forms was seen in seminal fluid, and azoo- or oligospermia was found in S.M. and G.M. Histology in S.M. revealed spermatogenic arrest.
    Aberration: Robertsonian translocations
    Index Terms: Oligospermia,Oligozoospermia
    No band
  • Raaijmakers-Engeln E: Identification of D/D translocations in mentally retarded patients. Humangenetik 17:165-168, 1973. [PubMed: 4120589]
    45,XX,t(13q14q).&45,XY,t(13q15q).
    Aberration: Robertsonian translocations
    No band
  • Robinson W P, Bernasconi F, Dutly F, Lefort G, Romain D R, Binkert F, Schinzel A A.: Molecular studies of translocations and trisomy involving chromosome 13. AJMG 61:158-163, 1996. [PubMed: 8669444]
    Aberration: Robertsonian translocations
    No band
  • Scheres J M J C: Identification of two Robertsonian translocations with a Giemsa banding technique. Humangenetik 15:253-256, 1972. [PubMed: 4117149]
    Case 1 (LV) in this report.
    46,XY,-13,-14,+t(13q14q),+21.
    Aberration: Robertsonian translocations
    No band
  • Schinzel A A, Adelsberger P A, Binkert F, Basaran S, Antonarakis S E: No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomittant familial chromosome rearrangements. AJHG 50:288-293, 1992. [PMC free article: PMC1682467] [PubMed: 1531165]
    Patient 4.
    46,XY,rob(13q14q).
    Aberration: Robertsonian translocations
    Index Terms: Interchromosomal effect
    No band
  • Schwartz S, Palmer C G, Weaver D D, Priest J H: Dicentric chromosome 13 and centromere inactivation. Hum. Genet. 63:332-337, 1983. [PubMed: 6862437]
    46,XX,-13,+psu dic(13)t(13;13)(pter -> cen -> q34::q34 -> pter)/46,XX,-13,+psu dic(13)t(13;13)(pter -> cen -> q22::q11 -> pter).
    Aberration: Dicentric chromosome
    No band
  • Shaffer L G.: Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation. Prenat. Diag. 26: 303-307, 2006. [PubMed: 16491515]
    Aberration: Uniparental disomy
    Index Terms: UPD and risk in ROB Robertsonian translocations
  • Shah D M, Roussis P, Ulm J, Jeanty P, Boehm F H: Cordocentesis for rapid karyotyping. Am. J. Obstet. Gynecol. 162:1548-1553, 1990. [PubMed: 2113766]
    Patient 5.
    46,XY,-13,+der(13)t(13q18p).
    At 27 weeks omphalocele was detected.
    Aberration: Simple translocation
    Index Terms: Omphalocele,Cordocentesis,Rapid karyotyping
    No band
  • Siffroi J P, Viguie F, Romani F: "Unstable translocation t(14;21) in a man, inherited as a t(13;14) in one of his daughters." Clin. Genet. 34:15-19, 1988. [PubMed: 3409535]
    45,XX,t(13q14q).&Sister, Father and grand-father:45,XX or XY,t(14q21q).
    Mother had several miscarriages.,"Hecht at al in their charateristic fashion have stated that ""Unstable"" translocation not proven unstable in Clin. Genet. 35:78-79, 1989."
    Aberration: Robertsonian translocations
    No band
  • Singh D N, Osborne R A, Horger E O: A case of double aneuploidy of Down''s syndrome and familial 13q and 14q translocation. AJHG 26:81A, 1974.
    45,XX,t(13q14q).&46,XY,-13,-14,+der t(13q14q)mat,+21.
    Aberration: Robertsonian translocations
    Index Terms: Down syndrome (Trisomy 21)
    No band
  • Sinha A K: Personal communication, 1976.
    Sinha A K, Pathak S, Nora J J: A human family suggesting evidence for centric fission and stability of a telocentric chromosome. Hum. Hered. 22:423-429, 1972. [PubMed: 4670062]
    45,XX,(13q14q)/46,XX.,The 46 chromosome cell line includes two D-group chromosomes, one of which was the telocentric "marker."
    Aberration: Centromeric fission
    No band
  • Smith A, Gaha T J: Data on families of chromosome translocation carriers ascertained because of habitual spontaneous abortion. Aust. N. Z. J. Obst. Gynecol. 30:57-62, 1990. [PubMed: 2346453]
    Cases 1, 2, 11, 13, 14, 18, 22, and 23.
    46,XX and XY,t(13q14q).
    Aberration: Robertsonian translocations
    Index Terms: Spontaneous abortion
    No band
  • Sparagana M, Smith G F: Klinefelter''s syndrome associated with a D/D translocation. J. Med. Genet. 12:299-314, 1975. [PMC free article: PMC1013294] [PubMed: 1177283]
    Case S.K.H. in this report.
    46,XXY,-13,-14,+t(13q14q).
    Aberration: Robertsonian translocations
    Index Terms: Klinefelter syndrome
    No band
  • Stallard R, Krueger S, James R S, Schwartz S.: Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q). AJMG 57:14-18, 1995. [PubMed: 7645591]
    45,XX,der rob(13q13q)mat.
    The obstetric history of the mother, a carrier of t(13q13q) was remarkable, 8 miscarriages, led to this study.
    Aberration: TR,IS
    Index Terms: Uniparental isodisomy
  • Stoll C, Levy J M: Identification of a familial Robertsonian translocation t(13q14q) by means of thermic moderated denaturation. Humangenetik 19:211-214, 1973. [PubMed: 4744407]
    45,XX,t(13q14q).,45,XX,der t(13q14q)mat.
    Aberration: Robertsonian translocations
    No band
  • Sudha T, Jayam S, Ramachandran R: The association of t(13q,14q) with Down''s syndrome and its inheritance. Ind. J. Pediat. 57:249-252, 1990. [PubMed: 2147167]
    45,XX,t(13q14q).,46,XY,-13,-14,+21,+der t(13q14q)mat.
    Aberration: Robertsonian translocations
    Index Terms: Down syndrome
    No band
  • Sullivan B A, Jenkins L S, Karson E M, Leana-Cox J, Schwartz S.: Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations. AJHG 59:167-175, 1996. [PMC free article: PMC1915107] [PubMed: 8659523]
    Sullivan B A, Schwartz S.: Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres. Hum. Mol. Genet. 4: 2189-2197, 1995. [PubMed: 8634687]
    Wolff D J, Schwartz S: Characterization of Robertsonian translocations by using fluorescence in situ hybridization. AJHG 50:174-181, 1992. [PMC free article: PMC1682527] [PubMed: 1729886]
    14 cases were studied.
    t(13q14q); t(13q15q); t(14q15q); t(14q21q); t(15q21q); t(15q22q); t(21q22q).
    Centromere activity was studied by FISH and immunofluorescence (CENP). Only one centromere was active in all but two cases.
    Aberration: Robertsonian translocations
    Index Terms: CENP-C,CENP-E
    No band
  • Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A.: Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum. Reprod. 11:2609-2612, 1996. [PubMed: 9021360]
    45,XY,t(13;14)
    Aberration: Robertsonian translocations
    Index Terms: ICSI
    No band
  • Tharapel S A, Lewandowski R C, Tharapel A T, Wilroy R S, Jr: Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13. J. Med. Genet. 23:310-315, 1986. [PMC free article: PMC1049695] [PubMed: 3746829]
    No band
  • Warren A C, Bowcock A M, Farrer L A, Antonarakis S E: An alpha satellite DNA polymorphism specific for the centromeric region of chromosome 13. Genomics 7:110-114, 1990. [PubMed: 1970794]
    Index Terms: Alpha satellite DNA
    No band
  • Wells S, Gregson N, Porter R J: A case of mosaicism involving an unstable 13/14 Robertsonian translocation. Prenat. Diag. 11:875-880, 1991. [PubMed: 1754558]
    45,XX,-13,-14,+dic(13q14q).,45,XX,-13,-14,+t(7;13;14)(7qter ->7p15::13q22->13qter;,7pter->7p15::13q22->13p11::14p11->14qter).
    Aberration: Robertsonian translocations
    Index Terms: Unstable translocation
    No band
  • Wennstrom J, Schroder J: A t(13q14q) family with the translocation and a Philadelphia chromosome in one member. Humangenetik 20:71-73, 1973. [PubMed: 4130189]
    45,XX,t(13q14q),del(22)(q1:).&45,XX and XY,der t(13q14q)mat and pat.
    Aberration: TR,TD
    Index Terms: Philadelphia chromosome (Ph1)
    No band
  • Wilson J A: Fertility in balanced heterozygotes for a familial centric fusion translocation, t(DqDq). J. Med. Genet. 8:175-178, 1971. [PMC free article: PMC1468988] [PubMed: 5107015]
    45,XX,t(13q14q).
    Aberration: Robertsonian translocations
    No band
  • Zankl H, Hahmann S: Cytogenetic examination of the NOR activity in a proband with 13/13 translocation and in her relatives. Hum. Genet. 43:275-279, 1978. [PubMed: 81168]
    In the proband, besides the fused chromosome 13, also a chromosome 14 and a 15 showed no NOR staining. It is assumed that the loss of NORs was compensated by the activation of inactive NORs. Also, it is suggested that the loss of NORs was compensated by a higher NOR activity of one chromosome 22.
    Aberration: Robertsonian translocations
    No band
  • Zeuthen E, Nielsen J: D-D translocations in males examined for military service. J. Med. Genet. 10:356-361, 1973. [PMC free article: PMC1013056] [PubMed: 4129971]
    Propositus Nos. 4060 and 5043 in this report.
    45,XY,t(13q14q).
    Aberration: Robertsonian translocations
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106234
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