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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-.

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

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08p230

8p23
  • Allderdice P W: A large kindred with segregation of pericentric inversion heterozygotes inv(3)(p25q21) and inv(8)(p23q22). Personal communication 26:9A, 1974,1974.
    46,XX,inv(8)(p23q22).&This inversion was found in four individuals in three generations. It is believed to have been inherited from the proband''s maternal grandfather. The maternal grandmother is a chromosomally normal member of the inversion 3 kindred. (See Allderdice, 1973 in entry 03p250).
    Aberration: RE,PI
    Negative band
  • Bailey S M, Meyne J, Cornforth M N, McConnell T S, Goodwin E H.: A new method for detecting pericentric inversions using COD-FISH. Cytogenet. Cell Genet. 75:248-253, 1996. [PubMed: 9067435]
    Gelb B D, Towbin J A, McCabe E R B, Sujansky E: San Luis valley recombinant chromosome 8 and tetralogy of fallot: a review of chromosome 8 anomalies and congenital heart disease. AJMG 40:471-476, 1991. [PubMed: 1746613]
    Smith A C M, Spuhler K, Williams T M, McConnell T, Sujansky E, Robinson A: Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the Southwestern United States. AJHG 41:1083-1103, 1987. [PMC free article: PMC1684361] [PubMed: 3687942]
    Sujansky E, Smith A C M, Peakman D C, McConnell T S, Baca P, Robinson A: Familial pericentric inversion of chromosome 8. AJMG 10:229-235, 1981. [PubMed: 6171164]
    Sujansky E, Smith A C M, Prescott K E, Freehauf C L, Clericuzio C, Robinson A: Natural history of the recombinant (8) syndrome. AJMG 47:512-525, 1993. [PubMed: 8256815]
    Waldstein G, McGavran L: Four-year experience with rapid bone marrow chromosome analysis in newborns. Arch. Path. Lab. Med. 111:703-707, 1987. [PubMed: 3632283]
    Williams T M, McConnell T S, Martinez F, Jr, Smith A C M, Sujansky E: Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome. Hum. Path. 15:1080-1084, 1984. [PubMed: 6490002]
    An inv(8) carrier has a 6.2% risk of having a rec(8) child.
    46,XX,inv(8)(p23q22).
    Eight children with rec(8),dup q, inv(8)(p23q22) from seven families with inv(8)(p23q22) were studied.
    46,XX and XY,rec(8),dup q(q22.1-qter),def p(p23.1-pter)mat.
    The cause of heart defects in SLV Rec(8) cannot be assigned to either the deletion of 8p or the duplication of 8q. Retrospective data on 42 patients was collected.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 8q+,8p-
    Index Terms: Tetralogy of Fallot,CHD
    Negative band
  • Barnes I C S, Kumar D, Bell R J M: A child with a recombinant of chromosome 8 inherited from her carrier mother. J. Med. Genet. 22:67-70, 1985. [PMC free article: PMC1049382] [PubMed: 3981583]
    46,XX,inv(8)(p23q24).&46,XX,rec(8),dup q,inv(8)(p23q24)mat.
    Aberration: Inversion pericentric
    Negative band
  • Blennow E, Brondum-Nielsen K: Partial monosomy 8p with minimal dysmorphic signs. J. Med. Genet. 27:327-329, 1990. [PMC free article: PMC1017085] [PubMed: 2352261]
    46,XX,del(8)(qter -> p23:)de novo.
    Patient was 18 years old, mildly retarded and had behavioural problems.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Negative band
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(8;9)(p23;q32); t(8;11)(p23;q14); inv(8)(p23q11); inv(8)(p23q12).
    Aberration: PI,RT
    Negative band
  • Boyd H, Kaste J, Hovi E, Ritanen-Mohammed U M, Kaariainen H, de la Chapelle A, Lehesjoki A E: Familial pericentric inversion inv(8)(p23q11). J. Med. Genet. 31:201-205, 1994. [PMC free article: PMC1049742] [PubMed: 8014967]
    46,XX and XY,inv(8)(p23q11)mat and pat.
    Two large families were reported with no recombinations or any other type of effect.
    Aberration: Inversion pericentric
    Negative band
  • Castillo-Taucher S: Personal communication, 1992.
    Castillo-Taucher S, Beca J P, Saez R, Geldres V: Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. Clin. Genet. 40:247-255, 1991. [PubMed: 1773541]
    46,XX,inv(8)(p23q13).&46,XY,der inv(8)(p23q13)mat.
    Patient now more than a year old with MCA/MR. Diagnosis of RCDP confirmed biochemically with a severe defect in phytanic acid oxidation.
    Aberration: Inversion pericentric
    MIM#: 215100
    Index Terms: Phytanic acid oxidation,RCDP, rhizomelic chondrodysplasia punctata
    Negative band
  • Centerwall W R, Mayeski C A, Cha C C: Trisomy 9q-. A variant of the 9p trisomy syndrome. Humangenetik 29:91-98, 1975. [PubMed: 1176141]
    46,XX,t(8;9)(p23;q22).,46,XY,der(8)der(9)t(8;9)(p23;q22)mat.,47,XY,der(9)t(8;9)(p23;q22)mat.
    Aberration: Simple translocation
    Negative band
  • Chieri P, Iolster N: "Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23)." Clin. Genet. 24:147-150, 1983. [PubMed: 6616953]
    46,XX,t(10;8)(q23;p23).&"46,XX,der(10)der(8)t(10;8)(q23;p23)mat."&"46,XX,-10,+der(10)t(10;8)(10pter -> 10q23::8p23 -> 8pter)mat."
    Patient G. A.,001281, was one year old.
    Aberration: Simple translocation
    Negative band
  • de Vries B B A, Lees M, Knight S J L, Regan R, Corney D, Flint J, Barnicoat A, Winter R M.: Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13). AJMG 99:314-319, 2001. [PubMed: 11251999]
    de Vries B B A, White S M, Knight S J L, Regan R, Homfray T, Young I D, Super M, McKeown C, Splitt M, Quarrell O W J, Trainer A H, Niermeijer M F, Malcolm S, Flint J, Hurst J A, Winter R M.: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet. 38:145-150, 2001. [PMC free article: PMC1734836] [PubMed: 11238680]
    46,XY.ish der(8)t(8;20)(p23;p13)mat(D8S2333-).
    Both cousins'' mothers have the balanced translocation as well as their brother. Case 1 was 7 years old, and case 2 was 16 years old.
    Figure 4B on page 317 is shown with trisomy 20p documentation but no mention is made of this in the text!
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8p-;20p+
    No band
  • Fujimoto A, Towner J W, Turkel S B, Wilson M G: A fetus with recombinant of chromosome 8 inherited from her carrier father. Hum. Genet. 40:241-248, 1978. [PubMed: 631845]
    Fujimoto A, Wilson M G, Towner J W: Familial inversion of chromosome No. 8: An affected child and a carrier fetus. Humangenetik 27:67-73, 1975. [PubMed: 49288]
    Cases II-1 and II-7 in this report.
    46,XX,inv(8)(p23q22).&46,XX,inv(8)(pter -> p23::q22 -> p23::q22 -> qter).
    Cases III-2 and III-5 in this report.
    46,XX and XY,-8,+der inv(8)(p23q22)mat.&46,XX and XY,-8,der inv(8)(pter -> p23::q22 -> p23::q22 -> qter)mat.
    Propositus III-6 in this report.
    46,XX,rec(8)dup q,inv(8)(p23q22)pat.&46,XX,rec(8)dup q,inv(8)(8qter -> 8q22::8p23 -> 8qter).
    Aberration: DU,PI,RE
    Negative band
  • Gilgenkrantz S, Defeche C, Stehlin S, Gregoire M J: "Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members." Hum. Genet. 58:436-440, 1981. [PubMed: 7327568]
    Gilgenkrantz S, Gregoire M J, Chery M, Defeche C: A union of two balanced translocation carriers. Family study over three generations. Ann. Genet. 28:164-166, 1985. [PubMed: 3879150]
    Patient Vincent R...000068.
    46,XX or XY, t(8;13)(p23;q14)mat and pat.,46,XY,t(13q14q).,47,XY,+der(13)t(8;13)(13pter->13q14::8p23->8pter)mat.,45,XX,rob(13q14q).,47,XY,der t(8;13)(p23;q14)pat,der rob(13q14q)mat,+der(13)t(8;13)(p23;q14)pat.
    Patient was 12 years old.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 8p+
    Negative 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. K4-155-61, K12-92-64, K14-14-65 and K12-77-66 in this report.
    46,XX, and XY,inv(8)(p23q11).&46,XX, and XY,inv(8)(pter -> p23::q11 -> p23::q11 -> qter).
    M. R. C. Registry No. K171-214-68 in this report.
    46,XX,t(8;18)(p23;p11).
    Aberration: ST,PI
    Negative band
  • Johnson M C, Hing A, Wood M K, Watson M S.: Chromosome abnormalities in congenital heart disease. AJMG 70:292-298, 1997. [PubMed: 9188669]
    Case 2:
    46,XX,inv dup(8)(p23p12)
    Anomalies included TA, LSVC, agenesis of corpus callosum, vertebral anomalies, and duplicated right renal system.
    Case 3:
    46,XX,del(8)(p23.1)
    Anomalies included TOF, AVC, scoliosis, and developmental delay.
    Case 4:
    46,XY,add(8)(p23;?)
    Anomalies included MA, DORV and developmental delay.
    Case 5:
    46,XY,del(8)(p23.1)
    Anomalies included ASD, VSD, and developmental delay.
    Aberration: TD,DU
    Chromosomal Aneuploidy: 8p-;8p+
    Index Terms: Congenital heart disease
  • Junge A, Domke N, Tolkendorf E: Cytogenetic investigation of peripheral lymphocyte cultures in couples with habitual abortions. Zent. Bl. Gynakol. 113:1046-1058, 1991. [PubMed: 1962519]
    Patient 4.
    46,XX,t(8;14)(p23;q31).
    Aberration: Reciprocal translocation
    Index Terms: Habitual abortions
    Negative band
  • Kleczkowska A, Fryns J P, Van den Berghe H: Pericentric inversions in man: personal experience and review of the literature. Hum. Genet. 75:333-338, 1987. [PubMed: 3570287]
    46,XY,inv(8)(p23q11)mat.
    Aberration: Inversion pericentric
    Negative band
  • Knight S J L, Regan R, Nicod A, Horsley S W, Kearney L, Homfray T, Winter R M, Bolton P, Flint J.: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681, 1999. [PubMed: 10568569]
    7.4% of children with moderate to severe MR and 0.5% of children with mild retardation were found to have these rearrangements. The estimated population prevalence of these rearrangements was 2.1/10,000 and they were familial in almost half the cases.
    46,XY,der(8)t(8;20)(p23;p13)mat.
    The patient was 7 years old with moderate MR. The phenotype included epilepsy, obstruction of lacrimal ducts, and undescended testes.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8p-;20p+
  • Kotzot D, Martinez M-J, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzankowska K, Dutly F, Gutkowska A, Karauzum S B, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37:281-286, 2000. [PMC free article: PMC1734569] [PubMed: 10745046]
    Case 9:
    46,XX,dup(8)(p11p23),del(8)(p23p23.3)
    Aberration: DU,ID
    Chromosomal Aneuploidy: 8p-;8p+
  • Le Caignec C, Boceno M, Jacquemont S, The Tich S N, Rival J-M, David A.: Inherited ring chromosome 8 without loss of subtelomeric sequences. Ann. Genet. 47:289-296, 2004. [PubMed: 15337475]
    Mother=46,XX,r(8)(p23q24.3)[22]/45,XX,-8[2]/47,XX,r(8)(p23q24.3),+r(8)(p23q24.3)[1].,Proband=46,XY,der r(8)(p23q24.3)mat[24]/45,XY,-8[2].
    The 6 1/2 year old had short stature, microcephaly, mild MR, and behavioral problems including hyperactivity and attention deficit. His mother presented with the same physical features but intellegience was normal.
    Aberration: Ring chromosome
    Index Terms: Ring (8) chromosome inherited
  • Lin C C, Uchida I A, Holtz H, Miller R C, Greene A E, Coriell L L: "An (8;12) translocation, balanced, 46 chromosomes. Repository identification No. GM-213." Cytogenet. Cell Genet. 14:78-79, 1975. [PubMed: 124242]
    Uchida I A, Lin C C: Identification of partial 12 trisomy by quinacrine fluorescence. J. Ped. 82:269-272, 1973. [PubMed: 4119313]
    46,XY,-8,+der(8)t(8;12)(p23;p12)pat. This individual is trisomic for chromosome 12 region p12->pter.,46,XX,der(8)der(12)t(8;12)(p23;p12)pat.,See del Solar and Uchida (1974, Case 8 G.S.) in entry 08p000.
    46,XY,t(8;12)(p23;p12).&"46,XY,t(8;12)(8qter -> 8p23::12p12 -> 12pter;12qter -> 12p12::8p23 -> 8pter)."
    Aberration: Reciprocal translocation
    Negative band
  • Lukusa T, Van den Berghe L, Smeets E, Fryns J P.: Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome. Ann. Genet. 42:215-220, 1999. [PubMed: 10674161]
    46,XX,der(8)t(8;13)(p23;q12.3),idic(13)(pter->q12.3:q12.3->pter)de novo.
    The proband was 40 years old .
    Aberration: RT,IC,DI
    Chromosomal Aneuploidy: 8p-;13q+
  • MacMillin M D, Suri V, Lytle C, Krauss C M.: Prenatal diagnosis of inverted duplicated 8p. AJMG 93:94-98, 2000. [PubMed: 10869109]
    Patient 2 had the same chromosome abnormality.
    Two patients were detected by ultrasound, at 16.5 and at 30 weeks, respectively.
    Patient 1:46,XY,inv dup(8)(p11.1->p23).,Father=46,XY,inv(2)(p15q21.3).
    Pregnancy was terminated.
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+;8p-
    No band
  • Magenis R E, Overton K M, Wyandt H E, Bergstrom T, Hecht F, Lovrien E: Exclusion gene mapping utilizing patients with chromosome imbalance: The HL-A system as a prototype. Humangenetik 27:91-109, 1975. [PubMed: 1150239]
    46,XX,t(8;10)(p23;p11).,46,XX,t(8;10)(8qter->8p23::10p11->10pter;10qter->10p11).
    Subject Ch.R. in this report.
    46,XY,-8,+der(8)t(8;10)(p23;p11)mat.
    Subject C.R. in this report.
    46,XX,-8,+der(8)t(8;10)(p23;p11)mat.
    Aberration: Simple translocation
    Negative band
  • Masuno M, Asano J I, Yasuda K, Kondo T, Orii T: Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother, derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies. AJMG 45:65-67, 1993. [PubMed: 8418663]
    Mother:46,XX,t(8;12)(9;12)(8qter->8p23::12q12->12q15::9q32->9qter;,9pter->9q32::12q15->12qter;12pter->12q12::8p23->8pter).,46,XX,-9,-12,+der(9)(9pter->9q32::12q15->12qter),+rec(12)(12pter->12q15::9q32->9qter)mat.
    The child had severe growth retardation, minor anomalies and almost normal psychomotor development at 19 months.
    Aberration: Complex translocation
    Negative band
  • Mattina T, Conti L, Milone G, Marino S, Sorge G: Inv(8)(p23q22) and recombinant derivative in a Sicilian family. Clin. Genet. 36:256-261, 1989. [PubMed: 2680173]
    Patient R.S.
    46,XX,rec(8),dup q,inv(8)(p23q22)pat.,Father-46,XY,inv(8)(p23q22).
    Aberration: PI,RE
    Chromosomal Aneuploidy: 8q+
    Negative band
  • Michalova K, Malkova J, Chrz R, Jana C: Two cases of C-group balanced translocations. Humangenetik 27:157-161, 1975. [PubMed: 50273]
    Case No. 2 in this report.
    46,XY,t(8;10)(p23;q11).,46,XY,t(8;10)(8qter->8p23::10q11->10qter).,In the text of the paper comment is made about the translocation being reciprocal but the diagram and description does not support this comment.
    Aberration: Simple translocation
    Negative band
  • Mingarelli R, Valorani G, Zelante L, Dallapiccola B: Ring chromosome 8 associated with microcephaly. Ann. Genet. 34:90-92, 1991. [PubMed: 1746890]
    Patient T.S.
    46,XX,r(8)(p23q24.3).
    The patient was 2 years old with MCA/MR.
    Aberration: Ring chromosome
    Index Terms: Microcephaly
    Negative band
  • Moedjono S J, Sparkes R S: Familial pericentric inversion of chromosome 8: Is breakpoint p22q23 important in the formation of unbalanced recombinants. Ann. Genet. 23:235-237, 1980. [PubMed: 6971603]
    46,XY,inv(8)(p23q22).&46,XY,der inv(8)(p23q22)pat.
    Patient, M.C.
    46,XX,rec(8)dup q inv(8)(p23q22)pat.
    Aberration: Inversion pericentric
    Negative band
  • Mulcahy M T, Jenkyn J: The 9p trisomy syndrome: Two further cases arising from different familial translocations. Clin. Genet. 8:199-204, 1975. [PubMed: 1175323]
    46,XX,t(8;9)(p23;p12).&"46,XX,der(8)der(9)t(8;9)(p23;p12)mat."
    Case 1, C.F. (171165) in this report.
    46,XX,-8,+der(8)t(8;9)(p23;p12)mat.&"46,XX,-8,+der(8)t(8;9)(8qter -> 8p23::9p12 -> 9pter)mat."
    Aberration: Simple translocation
    Negative band
  • Ohashi H, Ishikiriyama S, Fukushima Y: New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization. AJMG 45:123-128, 1993. [PubMed: 8418650]
    47,XX,+der(12)t(8;12)(p23;q13)mat.
    Patient was used as a control for the new method.
    Aberration: Simple translocation
    Negative band
  • Opheim K E, Brittingham A, Chapman D, Norwood T H.: Balanced reciprocal translocation mosaicism: how frequent? AJMG 57:601-604, 1995. [PubMed: 7573137]
    Case 2:
    46,XY,-8,+der(8),t(8;13)(p23.2;q21.2)mat.
    Patient was a newborn with MCA. Carpenter syndrome diagnosis was in the differential.
    Case 2:
    mos46,XX,t(8;13)(p23.2;q21.2) in 24/51 cells.
    Her child had MCA and was found to have an abnormal dervied karyotype.
    Aberration: Reciprocal translocation
    Index Terms: Translocation ... mosaicism
    Negative band
  • Palmer C, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 796.
    46,XX,-8,+der(8),t(8;11)(p23;p11)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Popp S, Jauch A, Schindler D, Speicher M R, Lengauer C, Donis-Keller H, Riethman H C, Cremer T: A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries with YAC clones. Hum. Genet. 92:527-532, 1993. [PubMed: 8262510]
    46,XX,-8,t(?;8)(?::8p23 -> 8qter).
    Case also published by Schindler (1993).
    Aberration: Simple translocation
    Index Terms: FISH
    Negative band
  • Pueschel S M, Padre-Mendoza T, Ellenbogen R: Partial trisomy 21. Clin. Genet. 18:392-395, 1980. [PubMed: 6450651]
    46,XY,-8,+t(8;21)(8qter -> 8p23::21q21 -> 21qter).
    Aberration: Simple translocation
    Negative band
  • Roberts S H, Howell R T, Laurence K M, Heathcote M E: "Stable dicentric autosome, t dic(8;22)(p23:p13), in a mentally retarded girl." J. Med. Genet. 14:66-68, 1977. [PMC free article: PMC1013511] [PubMed: 839505]
    Case S.R. in this report was 12 years old and had low weight, prognathism with a narrow high arched palate.
    45,XX,t dic(8;22)(p23;p13).&"45,XX,t dic(8;22)(8qter -> 8p23::22p13 -> 22qter)."
    Aberration: Dicentric chromosome
    Index Terms: Palate ... high arched
    Negative band
  • Sachs E S, Jahoda M G J, Kleijer W J, Pijpers L, Galjaard H: Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases. AJMG 29:293-303, 1988. [PubMed: 3354601]
    Case 22: 86-371.
    The fetal karyotype was abnormal.
    46,XY,t(8;16)(p23;q11).&"46,-8,+der(8),t(8;16)(8qter -> 8p23::16q11 -> 16qter)pat."
    Aberration: Reciprocal translocation
    Negative band
  • Schrander-Stumpel C, Schrander J, Fryns J P, Hamers G: "Trisomy 17p due to a t(8;17)(p23;p11.2)pat translocation. Case report and review of the literature." Clin. Genet. 37:148-152, 1990. [PubMed: 2178819]
    Patient D.K.
    46,XY,t(8;17)(p23;p11.2)pat.&"46,XX,-8,+der(8),t(8;17)(8qter -> 8p23::17p11.2 -> 17pter)pat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 17p+
    Negative band
  • Selicorni A, Guerneri S, Ratti A, Pizzuti A.: Cytogenetic mapping of a novel locus for type II Waardenburg syndrome. Hum. Genet. 110:64-67, 2002. [PubMed: 11810298]
    Patient II-1 was 24 years old with Wolf-Hirschhorn syndrome characteristics. A sister, II-2, of the proband, and the father I-1 had WS type II
    Patient II-1=der(4)t(4;8)(p16.3;p23)pat.,I-1=46,XY,t(4;8)(p16.3;p23).
    It is hypothesized that a position effect and/or structural rearrangement at 8p23 interferes with the gene causing WS type II.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8p-;4p-
    Index Terms: Waardenburg syndrome ... type II,WHS
  • Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N.: Molecular characterization of inv dup del(8p): analysis of five cases. AJMG DOI=10.1002.ajmg.a.30063, 2004. [PubMed: 15214003]
    Case 1=dup(8)(p23->p11.21).,Case 2=dup(8)(p23->p11.1).,Case 3=dup(8)(p23->p11.23).,Case 4=dup(8)(p23->p12).,Case 5=dup(8)(p23->p12).,All five mothers=46,XX,inv(8)(p23).
    All patients showed MR, craniofacial, ocular, cardiac, and skeletal anomalies.
    Aberration: DU,IP,ID,RE
    Chromosomal Aneuploidy: 8p+
  • Sutherland G R, Carter R F, Bauld R, Smith I I, Bain A D: Chromosome studies at the paediatric necropsy. Ann. Hum. Genet. 42:173-181, 1978. [PubMed: 569457]
    inv(8)(p23q11).
    Aberration: Inversion pericentric
    Negative band
  • Tsai C-H, Graw S L, McGavran L.: 8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation? J. Med. Genet. 39:769-774, 2002. [PMC free article: PMC1734989] [PubMed: 12362038]
    14 subjects in 8 kindreds were studied.
    dup(8)(p23.1).
    Developmental delay was found in 6/9 (67%)cases. Cardiac defect in 4/10 (40%).
    Five cases of affected parent-child and 2 de novo. 10 males and 4 females.
    Aberration: DU,MA
    Chromosomal Aneuploidy: 8p+
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    Data from Albany medical College, Albany, NY.
    46,XX,inv(8)(p23q11).
    There was facial clefting and elective termination.
    Aberration: Inversion pericentric
    Index Terms: Facila clefting
    Negative band
  • Young S R, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 797.
    46,XX,t(8;11)(p23;q13)pat.
    Aberration: Reciprocal translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106127
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