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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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04p160

4p16
  • Al Husain M, Zaki O K.: A survey of 1,000 cases referred for cytogenetic study to King Khalid University hospital, Saudi Arabia. Hum. Hered. 49:208-214, 1999. [PubMed: 10436383]
    Case referred because of two repeated abortions.
    46,XX,t(4;17)(p16;q24).
    Aberration: Reciprocal translocation
  • Altherr M R, Gusella J F, Wasmuth J J, Kummer M A, McKercher S W, Johnson V P: Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome. AJMG 44:449-454, 1992. [PubMed: 1442886]
    Patient P.D.
    46,XX,del(4)(p16 -> pter).
    Loci D4S95 and D4S125 were useful in determining the paternal origin of the deleted chromosome.
    Aberration: Terminal deletion
    MIM#: 194190
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
  • Anderlid B-M, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjold M.: Subtelomeric rearrangements detected in patients with idiopathic mental retardation. AJMG 107:275-284, 2002. [PubMed: 11840483]
    de Vries B B A, Winter R, Schinzel A, van Ravenswaaij-Arts C.: Telomeres: a diagnosis at the end of the chromosomes. J. Med. Genet. 40:385-398, 2003. [PMC free article: PMC1735506] [PubMed: 12807958]
    de Vries et al (2003) review the data on subtelomeric deletion syndromes quite extensively.
    Patient 3:46,XX,del(4)(pter)(PAC-probe36P21,WHSCR,TelVysion 4p, Vysis).
    The patient, born in 1996, had dysmorphism, and developmentally delayed.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
  • 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. 12738 in this report.
    46,XY,t(4;8)(p16;q22).&"46,XY,t(4;8)(4qter -> 4p16::8q22 -> 8qter;8pter -> 8q22::4p16 -> 4pter)."
    Aberration: Reciprocal translocation
    Negative band
  • Bamshad M, O''Quinn J R, Carey J C.: Wolf-Hirschhorn syndrome and a Split-hand malformation. AJMG 75:351-354, 1998. [PubMed: 9482640]
    Proposita, M.W.:
    46,XX,del(4)(p16-pter).
    Right split hand malformation and WHS characteristics were present.
    Aberration: Terminal deletion
    MIM#: 194190
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome,Split-hand malformation (SHFM)
  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 14:
    t(4;22)(p16;q12)mat.,Fetal karyotype - 46,XY,t(4;22).
    Family ascertained because of a previous infant with an unbalanced karyotype.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    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(4;10)(p16;p14); t(4;16)(p16;q13); t(4;20)(p16;q11); t(4;20)(p16;q13); inv(4)(p16q12 or 3).
    Aberration: PI,RT
    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(4;8)(p169;p231).
    Aberration: Reciprocal translocation
    Negative band
  • Cantu J M, Hernandez A, Nazara Z, Rolon A, Ramirez M L, Sanchez-Corona J, Rivera H: Simultaneous trisomy 10q24 to qter and monosomy 4p16: an example of epistasis at the chromosome level. Ann. Genet. 24:41-44, 1981. [PubMed: 6971617]
    46,XY,t(4;10)(p16;q24).&"46,XX,der(4)der(10)t(4;10)(p16;q24)pat."&"46,XX,-4,+der(4)t(4;10)(4qter -> 4p16::10q24 -> 10qter)mat and pat."
    Patient and her aunt had the same abnormal karyotypes.
    Aberration: Simple translocation
    Negative band
  • Chen C-P, Devriendt K, Chern S-R, Lee C-C, Wang W, Lin S-P.: Prenatal diagnosis of inherited satellited non-acrocentric chromosomes. Prenat. Diag. 20:384-389, 2000. [PubMed: 10820405]
    46,XX,t(4;15)(p16;p11.1).,46,XX,der(4)t(4;15)mat.
    The affected child showed features of Wolf-Hirschhorn syndrome.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    No band
  • Cohen M M, Ornoy A, Rosenmann A, Kohn G: "An inherited translocation t(4;15)(p16;q22) leading to two cases of partial trisomy 15." Ann. Genet. 18:99-103, 1975. [PubMed: 1081372]
    Kohn G, Ornoy A, Cohen M M: Prenatal diagnosis. J. Med. Genet. 11:247-248, 1974. [PMC free article: PMC1013135] [PubMed: 4431030]
    46,XX,t(4;15)(p16;q22).&"47,XX,+der(15)t(4;15)(p16;q22)mat."&The partial trisomy of 15p and 15q proximal region was found in two individuals in this family.
    Aberration: Reciprocal translocation
    Negative band
  • Dallapiccola B, Mandich P, Bellone E, Selicorni A, Mokin V, Ajmar F, Novelli G: Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. AJMG 47:921-924, 1993. [PubMed: 7904122]
    7 patients with de novo distal deletions were studied.
    All patients had severe growth retardation, mental deficiency, hypotonia, seizures, and "Greek helmet" appearance.
    Five cases had paternal disturbance and 2 maternal. The high preponderance of paternal origin of the cause is attributed to differences in the mechanism of sperm and egg production.
    Aberration: Terminal deletion
    MIM#: 194190
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Registry No. 1462 in this report.
    45,XY,-4,-22,+der(4),t(4;22)(p16;q11)pat.
    Aberration: Reciprocal translocation
    Negative band
  • De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]
    t(4;12)(p16;p11).
    Aberration: Reciprocal translocation
    Negative band
  • 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,del(4)(p16.1)de novo.,46,XY,der(4)t(4;11)(p16;p15.5).,46,XY,der(4)t(4;22)(p16;q13.3).,46,XY,der(22)t(4;22)(p16;q13.3).
    Aberration: TD,ST
    Chromosomal Aneuploidy: 4p-;
  • Dodge A, Read A P: Definition of a chromosomal breakpoint near to the Huntington''s disease locus. J. Med. Genet. 26:214-215, 1989.
    McKeown C, Read A P, Dodge A, Stecko O, Mercer A, Harris R: Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. J. Med. Genet. 24:410-412, 1987. [PMC free article: PMC1050148] [PubMed: 3612716]
    46,XX,t(4;12)(p16;p133).&"46,XY,-4,+der(4),t(4;12)(p16;p133)mat. Monosomic for 4p16 -> 4pter."
    Studies with the G8 probe showed that the breakpoint lay distal to the D4S10 locus. Results with the more distal probe D4S43 show that the breakpoint lies between D4S10 and D4S43.
    Aberration: Simple translocation
    MIM#: 143100
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
  • Fauth C, Zhang H, Harabacz S, Brown J, Saracoglu K, Lederer G, Rittinger O, Rost I, Eils R, Kearney L, Speicher M R.: A new strategy for the detection of subtelomeric rearrangements. Hum. Genet. 109:576-583, 2001. [PubMed: 11810269]
    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.
    Pedigree ID 2.1:
    46,XX,der(4)t(4;22)(p16;q13.3)pat.
    The patient was 21 years old with severe MR. Phenotypic anomalies include prominent nasal bridge, brachycephaly, microcephaly, severe eczema, and short stature.
    The estimated size of deletion is about 1.9-2.0 Mb.
    Pedigree ID 2.1:
    46,XY,der(4)t(4;11)(p16;p15.5)pat.
    The patient was 8 years old with moderate MR. The phenotype included plagiocephaly, hypertelorism, cleft palate, craniosynostosis, talipes, diastematomelia.
    The size of 4p- is estimated to be >4.4 Mb.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p-;22q+
  • Finley W H, Finley S C, Chonmaitree T, Koors J E, Chandler W C: Ring 4 chromosome with terminal p and q deletions. AJDC 135:729-731, 1981. [PubMed: 7270516]
    Patient, 011177, was 2 months old. Parents had normal karyotypes.
    46,XY,r(4)(p16q35).
    Aberration: Ring chromosome
    Negative band
  • Freyberger G, Wamsler C, Schmid M: Ring chromosome 4 in a child with mild dysmorphic signs. Clin. Genet. 39:151-155, 1991. [PubMed: 2015696]
    46,XY,r(4)(p16q35)de novo.
    Patient was 8 years old.
    Aberration: Ring chromosome
    Negative band
  • Fryns J P, de Muelenaere A, Van den Berghe H: The 4p- syndrome in a 24-years-old female. Ann. Genet. 24:110-111, 1981. [PubMed: 6977289]
    Patient S. A., was 24 years old, deeply mentally retarded, and is claimed to be oldest surviving individual with the syndrome. Parents had normal karyotypes.
    46,XX,del(4)(p16).
    Aberration: Terminal deletion
    Negative band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XY,t(4;10)(p16;q26).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Fujimoto A, Wilson M G: Growth retardation in Wolf-Hirschhorn syndrome. Hum. Genet. 84:296-297, 1990. [PubMed: 2303250]
    46,XX,del(4)(qter -> p16:).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome,Growth retardation
    Negative band
  • Gallien J U, Neu R L, Wyun R J, Steinberg-Warren N, Bannerman R M: An infant with duplication of 17q21 to 17qter. AJMG 8:111-115, 1981. [PubMed: 7246600]
    46,XX,t(4;17)(p16;q21).&"46,XY,der(4)der(17)t(4;17)(p16;q21)mat."&"46,XX,-4,+der(4)t(4;17)(4qter -> 4p16::17q21 -> 17qter)pat."
    Patient died two hours after birth. Abnormalities of five patients with 17q trisomy include severe growth impairment, craniofacial anomalies with severe hypertelorism, frontal bossing and temporal narrowness, a widow''s peak, narrow palpebral fissures, a thin upper lip overlapping a thin lower lip with down-turned corners of the mouth, micrognathia, apparently low-set and deformed ears, short webbed neck, and hyperlaxity of the limbs.
    Aberration: Simple translocation
    Index Terms: Ears ... low-set malformed,Face ... anomalies,Hypertelorism,Lips ... thin,Micrognathia,Mouth ... downturned corners,Neck ... short webbed,Palpebral fissures ... narrow
    Negative band
  • Gandelman K Y, Gibson L, Meyn M S, Yang-Feng T L: Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. AJHG 51:571-578, 1992. [PMC free article: PMC1682730] [PubMed: 1379774]
    Jackson L G, Bozarth B, Aronson M M, Greene A E, Coriell L L: Repository identification No. GM-1220. Cytogenet. Cell Genet. 19:50, 1977,1977. [PubMed: 891262]
    26 year-old phenotypically normal woman.
    46,XX,t(4;7)(p16;q34).&"46,XX,-4,+der(4)t(4;7)(p16;q34)mat."
    The patient did not present with WHS but showed hypotonia and cardiac defects.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q+
    Index Terms: Congenital heart defects (cardiovascular anomalies),Foot ... talipes equinovarus (club foot),Hypotonia
    Negative band
  • Gardner R J M, Docker H E, Fitzgerald P H, Parfitt R G, Romain D R, Scobie N, Shaw R L, Tumewu P, Watt A J: Mosaicism with a normal cell line and an autosomal structural rearrangement. J. Med. Genet. 31:108-114, 1994. [PMC free article: PMC1049669] [PubMed: 8182714]
    Case 9:
    mos46,XY,fra(X)/46,XY,rcp(4;20)(p16;q13).
    Aberration: Reciprocal translocation
    Index Terms: Mosaicism
    Negative band
  • Garlinger P, McGeary S A, Magenis R E: Partial trisomy 22: A recognizable syndrome. Clin. Genet. 12:9-16, 1977. [PubMed: 891009]
    Case 1(UOHSC #2465) C. N. in this report.
    The syndrome characteristics suggested include mental retardation, congenital heart disease, skeletal anomalies, anti-mongoloid slant of the palpebral fissures, preauricular skin tags and low-set ears.&"46,XX,t(4;22)(p16;q12)."&"46,XX,t(4;22)(4qter -> 4p16::22q12 -> 22qter;22pter -> 22q12:)."&"46,XX,der(4)der(22),t(4;22)(p16;q12)mat."&"mos 46,XY/47,XY,+der(22),t(4;22)(p16;q12)mat."
    Aberration: Simple translocation
    Index Terms: Congenital heart defects (cardiovascular anomalies),Ears ... low-set,Ears ... preauricular skin tags,Palpebral fissures ... antimongoloid slant,Skin ... tag and/or sinus
    Negative band
  • Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. : Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. AJHG DOI=0002-9297/2002/7102, 2002. [PMC free article: PMC379160] [PubMed: 12058347]
    Tonnies H, Stumm M, Neumann L, Volleth M, Grumpelt U, Musebeck J, Annuss G, Neitzel H.: Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH. J. Med, Genet. 38:e21, 2001. [PMC free article: PMC1734892] [PubMed: 11389168]
    Wieczorek D, Krause M, Majewski F, Albrecht B, Meinecke P, Riess O, Gillessen-Kaesbach G.: Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). J. Med. Genet. 37:798-804, 2000. [PMC free article: PMC1757157] [PubMed: 11183188]
    Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selocorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G.: Wolf-Hirschhorn syndrome-assocaited chromosome chnages are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. Hum. Genet. DOI=10.1007/s00439-007-0412-5; 122:423-430, 2007. [PubMed: 17676343]
    Zollino et al concluded that the 4p16.3 inversion polymorphism was not a risk factor for the origin of WHS-associated chromosome changes such as t(4p;8p) or del(4p-).
    Tonnies et al:Patient 1=46,XY,der(4).ish der(4)t(4;8)(p16.1;p23)(wcp4+,wcp8+,WHSc1-,D4Z1+).,Patient 2=46,XY,der(4).ish der(4)t(4;8)(p16.1;p23)(wcp4+,wcp8+,D4S96-,D4Z1+).
    Patient 6.
    46,XY,der(4)t(4;7)(p16;p22).ish t(4;8)(wcp4-, 7ptel+, pC847.351-, D4S96-, 228a7-; wcp4-, 7ptel+).
    Patients 1 and 2.
    46,XX,der(4),t(4;8)(p16.3;p23.1).ish t(4;8)(wcp4-, wcp8+, 8ptel+, pC847.351-, D4S96-, 228a7-; wcp4-, wcp8+, 8ptel+).
    Patients 3, 4, and 5.
    46,XX,der(4),t(4;8)(p16.2;p21).ish t(4;8)(wcp4-, wcp8+, 8ptel+, pC847.351-, D4S96-, 228a7-, 405D10; wcp4-, wcp8+, 8ptel+).
    Aberration: Simple translocation
    MIM#: 194190
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
  • Halal F, Vekemans M J J: Ring chromosome 4 in a child with duodenal atresia. AJMG 37:79-82, 1990. [PubMed: 2240048]
    46,XX,r(4)(p16q35)(81)/45,XX,-r(4)(12)/47,XX,-4,+r(4),+r(4)(2).
    Patient was 19 months old with multiple congenital anomalies.
    Parents had normal chromosomes.
    Aberration: Ring chromosome
    Negative band
  • Hamerton J L, Canning N, Ray M, Smith S: A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin. Genet. 8:223-243, 1975. [PubMed: 1183067]
    46,XX,t(4;15)(p16;q12).
    Case 99 (090270) in this report.
    46,XX,der(4)der(15)t(4;15)(p16;q12)mat.
    Aberration: Simple translocation
    Negative band
  • Haspeslagh M, Fryns J P, Moerman Ph: Severe limb malformation in 4p deletion. Clin. Genet. 25:353-356, 1984. [PubMed: 6713712]
    46,XY,del(4)(4qter -> 4p16:).
    Aberration: Terminal deletion
    Negative band
  • Heim S, Kristoffersson U, Mandahl N, Mineur A, Mitelman F, Edvall H, Gustavii B: Chromosome analysis in 100 cases of first trimester trophoblast sampling. Clin. Genet. 27:451-457, 1985. [PubMed: 4006268]
    Case No. 42.
    46,XY,t(4;7)(p16;q32).
    Aberration: Reciprocal translocation
    Negative band
  • Hill S, Creasy M R, Bundey S: A family with three sisters with the 4p- syndrome, originally reported as suffering from the Smith-Lemli-Opitz syndrome. J. Ment. Def. Res. 35:76-80, 1991. [PubMed: 2038028]
    46,XX,t(4;22)(p16;p13).&"46,XX,-4,+der(4),t(4;22)(p16;p13)mat."
    Because of the unusual phenotypic features this family was restudied and the karyotype redefined.
    The chromosome 22ps+ was not a polymorphism but was found to be the distal tip of 4p.
    Aberration: Reciprocal translocation
    MIM#: 270400
    Chromosomal Aneuploidy: 4p-
    Negative band
  • Bergemann A D, Cole F, Hirschhorn K.: The etiology of Wolf-Hirschhorn syndrome. Trends in Genet. 21:188-195, 2005. [PubMed: 15734578]
    Hanley-Lopez J, Estabrooks L L, Stiehm E R: Antibody deficiency in Wolf-Hirschhorn syndrome. J. Pediat. 133:141-143, 1998. [PubMed: 9672528]
    Hirschhorn K, Cooper H L, Firschein I L: Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik 1:479-482, 1965. [PubMed: 5895684]
    46,XY,del(4)(p1).&46,XY,del(4)(qter -> p1:).,One of the first two reports of this condition which has also been called ''Wolf-Hirschhorn'' syndrome.
    9/13 infection-prone children were identified with antibody deficiencies with WHS. This suggests a regulatory gene within the deleted region.
    Aberration: Terminal deletion
    MIM#: 194190
    Index Terms: Wolf-Hirschhorn syndrome (WHSC1)
  • Hou J W, Wang T R.: Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. J. Med. Genet. 33:879-881, 1996. [PMC free article: PMC1050772] [PubMed: 8933346]
    mos46,XX(84%)/46,XX,r(4)(p16->q22.3)(12%)/,47,XX,r(4)+del(4)(pter->q22.3:)(4%).
    The baby had MCA, left upper amelia, congenital short bowel with malrotation and pseudo-obstruction, dextrocardia with situs solitus, patent ductus arteriosus, and a tiny atrophic spleen.
    Aberration: Ring chromosome
    Index Terms: Amelia,Asplenia,Bowel,short,congenital
    Negative band
  • Howard-Peebles P N, 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. 1088.
    47,X?,+der(22),t(4;22)(p16;q11)pat.
    Aberration: Reciprocal translocation
    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]
    M. R. C. Registry No. K184-225-71 in this report.
    46,XY,t(4;6)(p16;p11).
    Aberration: Simple translocation
    Negative band
  • Jenkins M, 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. 508.
    46,XY,-4,+der(4),t(4;18)(p16;q12)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Karp L, Resta 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. 435.
    46,XX,-4,+der(4),t(4;8)(p16;p23)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Kocks A, Endele S, Heller R, Schroder B, Schafer H-J, Stadtler C, Makrigeorgi-Butera M, Winterpacht A.: Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints. J. Med. Genet. 39:e23, 2002. [PMC free article: PMC1735105] [PubMed: 12011164]
    mos45,XX,-4[56%]/46,XX,r(4)(p16q33)[44%].
    Ultrasound examinations during pregnancy showed MCA, and it was terminated.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 4p-;4q-
  • Leonard C, Huret J L: A photometer used for diagnosing a small-sized 4p deletion in Wolf syndrome. Clin. Genet. 34:276-278, 1988. [PubMed: 3233781]
    46,XY,del(4)(p1605)de novo.
    The newborn''s characteristics were that of Wolf syndrome.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Negative band
  • Magenis E, Olson S, 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. 1087.
    47,X?,+der(22),t(4;22)(p16;q11)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Martsolf J T, Chase T R, Jalal S M, Wasdahl W A: "Familial transmission of Wolf syndrome resulting from specific deletion 4p16 from t(4;8)(p16;p21)mat." Clin. Genet. 31:366-369, 1987. [PubMed: 3621637]
    Mother:46,XX,t(4;8)(p16;p21).&"46,XX or XY,-4,+der(4),t(4;8)(4qter -> 4p16::8p21 -> 8pter)mat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p-,8p+
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
  • McDermott A, Voyce M A, Romain D R: Ring chromosome 4. J. Med. Genet. 14:228-232, 1977. [PMC free article: PMC1013566] [PubMed: 881718]
    46,XY,r(4)(p16;q35).&The 4 year-old boy was mentally and physically retarded. Karyotypes of parents were normal.
    Aberration: Ring chromosome
    Negative band
  • Mead D, Wason D, Richkind K E, Wagner S: Mosaicism for del(4)(p16) in patient with features of Wolf-Hirschhorn syndrome. Cytogenet. Cell Genet. 63:251, 1993.
    mos46,XY/46,XY,del(4)(p16)de novo-33% in skin and 65% in blood.
    Patient was 18 months old and was evaluated because of developmental delay and features suggestive of WHS.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
  • Melnyk A R, Weiss L, van Dyke D L, Jarvi P: Malformation syndrome of duplication 12q24.1 to qter. AJMG 10:357-365, 1981. [PubMed: 7332029]
    46,XX,t(4;12)(p16;q24.1).&"46,XX or XY,der(4)der(12)t(4;12)(p16;q24.1)mat."&"46,XY,-4,+der(4)t(4;12)(4qter -> 4p16::12q241 -> 12qter)mat."
    Aberration: Duplication
    Negative band
  • Neri G, Serra A, Campana M, Tedeschi B: Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. AJMG 16:535-561, 1983. [PubMed: 6660248]
    Sibship R.M.P. in this report.
    t(4;20)(p16;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Oikawa K, Trent M, Lebovitz R: Familial balanced translocation 4p+/17q-as a suggested cause of primary trisomy 21 Down''s Syndrome. Arch. Dis. Childhood 52:890-893, 1977. [PMC free article: PMC1544828] [PubMed: 145829]
    46,XX,t(4;17)(p16;q21).&"47,XY,+21,der(4)der(17)t(4;17)(p16;q21)mat."&The mother was phenotypically normal.
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Patil 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. 1237.
    46,XX,inv(4)(p16q31).
    Aberration: Inversion pericentric
    Negative band
  • Pauli R M, Kirkpatrick S J, Meisner L F, Mijanovich J R, Spritz R A: Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation. Clin. Genet. 22:340-347, 1982. [PubMed: 7160105]
    46,XX,t(4;10)(p16;q24).&"46,XX and XY,der(4)der(10)t(4;10)(p16;q24)mat."&"46,XX and XY,-4,+der(4)t(4;10)(4qter -> 4p16::10q24 -> 10qter)pat."
    Aberration: Simple translocation
    Negative band
  • Phelan M C, Saul R A, Gailey T A, Jr., Skinner S A.: Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21. Prenat. Diag. 15:274-277, 1995. [PubMed: 7784386]
    mos47,XX,+21/47,XX,del(4)(p16),+21.
    Spontaneous abortion at 34 weeks occurred.
    Aberration: Terminal deletion
    Index Terms: Double abnormality
    Negative band
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XX,t(4;20)(p16;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Radha Ramadevi A, Naik U, Dutta U, Srikanth, Prabhakara K.: De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation. AJMG 10.1002/ajmg.10739; 113:190-192, 2002. [PubMed: 12407711]
    46,XY,inv(4)(p16q12)de novo
    The proband was 8 years old and born to consanguineous parents.
    Aberration: Inversion pericentric
    MIM#: 172800
    Index Terms: Piebaldism
  • Rivas F, Garcia-Esquivel L, Rivera H, Jimenez M, Gonzalez R M, Cantu J M: Inv(4)(p16q21). A five-generation pedigree with 24 carriers and no recombinants. Clin. Genet. 31:97-101, 1987. [PubMed: 3829444]
    46,XX or XY,inv(4)(p16q21).
    Aberration: Inversion pericentric
    Negative band
  • Rolland M O, Bourrouillou G, Elana G, Colombies P, Regnier C: Partial trisomy 10p due to paternal origin. Two new cases in two different families. Ann. Genet. 20:209-213, 1977. [PubMed: 304706]
    46,XY,t(4;10)(p16;p14).&"46,XY,t(4;10)(4qter -> 4p16::10p14 -> 10pter;10qter -> 10p14::4p16 -> 4pter)."
    Observation No. 1: B... Carole in this report.
    46,XX,-4,+der(4),t(4;10)(p16;p14)pat.&"This patient and another reported under 10p110 show severe growth retardation psychomotor retardation, a dysmorphic mouth recalling a ""tortois mouth""."
    Aberration: Reciprocal translocation
    Index Terms: Mouth ... anomalies
    Negative band
  • Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Bricarelli F D, Bonaglia M C, Bedeschi MF, Borgatti R.: Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J. Med. Genet. 38:417-420, 2001. [PMC free article: PMC1734891] [PubMed: 11424927]
    Case 5=der(5p)t(4p;5p)mat.
    Patient 2 years old at the time of initial karyotyping and 15 years old at telomere testing. Moderate MR with MCA.
    Partial trisomy 4p, <11 cM (702E11+).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p+;5p-
    No 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 5, 86-236
    The fetal karyotype was normal.
    46,XY,t(4;22)(p16;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    46,XX,t(4;20)(p16;p11).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Serville F D, Broustet A: Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum. Genet. 39:239-242, 1977. [PubMed: 598833]
    A 16-1/2 month-old patient with multiple congenital anomalies is described. Parents karyotypes were normal.
    46,XX,del(4),inv(4)(pter->p16::q24->p16::q32->qter).&Interstitial deletion of segment q24->q32 is believed to have occurred.
    Aberration: Inversion pericentric
    Negative band
  • Simpson J L, Elias S, Meyers C M, Ober C, Martin A O: Translocations are infrequent among couples having repeated spontaneous abortions but no other abnormal pregnancies. Fert. Ster. 51:811-814, 1989. [PubMed: 2707455]
    46,XX,rcp(4;11)(4qter -> 4p16::11q13 -> 11qter;11pter -> 11q13::4p16 -> 4pter).
    Aberration: Reciprocal translocation
    Negative band
  • Soukup S W, Yarema W, Robinow M: A pericentric inversion of chromosome 4 with a t(4q+10p-) and a familial t(DqDq) in a mentally retarded girl. Humangenetik 25:69-78, 1974. [PubMed: 4442881]
    45,XY,t(13q14q).&45,XX,der t(13q14q)pat.&"45,XX,inv(4)(p16q21),t\inv(4);10\(q35;p14),der t(13q14q)mat."
    Case 160162 in this report.
    45,XX,inv(4)(p16q21)tinv(4);10(q35;p14),der t(13q14q)mat.
    Aberration: PI,ST
    Negative band
  • Sreekantaiah C, Han T, Baer M R, Sandberg A A: Acute nonlymphocytic leukemia in a patient with a constitutional inv(4). Cancer Genet. Cytogenet. 39:119-123, 1989. [PubMed: 2731138]
    46,XY,inv(4)(p16q26).
    Aberration: Inversion pericentric
    Negative band
  • Stetka D G, 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. 502.
    46,XY,t(4;17)(p16;q21).
    Aberration: Reciprocal translocation
    Negative band
  • Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C: The Wolf-Hirschhorn syndrome in fetuses. Clin. Genet. 42:281-287, 1992. [PubMed: 1493641]
    Case 2.
    46,XY,del(4)(p16)de novo.
    Pregnancy terminated at 26 weeks.
    Case 4.
    46,XX,del(4)(p16)de novo.
    Gestation was medically terminated at 35 weeks.
    Case 5.
    46,XY,del(4)(p16)de novo.
    Pregnancy terminated at 37 weeks.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
  • Tajara E H, Varella-Garcia M, Gusson A C T: Partial trisomy 12q24.31 to qter. J. Med. Genet. 22:73-76, 1985. [PMC free article: PMC1049384] [PubMed: 3981585]
    46,XX,t(4;12)(p16;q24.31).&"46,XY,-4,+der(4)t(4;12)(4qter -> 4p16::12q24.31 -> 12qter)mat."&"46,XY,der(4)der(12)t(4;12)(p16;q24.31)mat."
    Aberration: Reciprocal translocation
    Negative band
  • Takeno S S, Corbani M, Andrade J A D, Smith M de A C, Brunoni D, Melaragno M I.: Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation. AJMG DOI=10.1002/ajmg.a.30224;129A:180-183, 2004. [PubMed: 15316961]
    46,XX,t(4;13)(p16;q11).,Proposita=47,XX,+der(13)t(4;13)(p16;q11).,Father=47,XY,+der(13)t(4;13)(p16;q11)mat.,Uncle=45,XY,der(4)t(4;13)(p16;q11)mat,-13.
    The 50 month old proband was being evaluated for MCA and mild MR.
    The translocation was present in four generations.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p+;4p-
    Index Terms: WHS
  • Taylor M R G, Sujansky E.: Seckel syndrome phenotype in a live-born with ring 4/monosomy 4 chromosomal mosaicism. Genet. in Med. 2:88, Abstr. #86, 2000.
    Amnio=mos46,XX,r(4)(p?q?35)[8]/45,XX,-4[12].,Blood=mos46,XX,r(4)(p16q35)[24]/45,XX,-4[4].
    The infant has MCA. Her weight at 33 days of life was 1332 grams.
    Aberration: Ring chromosome
    MIM#: 210600
    Index Terms: Seckel syndrome
  • Tharapel S A, Dev V G, Shulman L P, Tharapel A T.: Prenatal karyotyping using fetal blood obtained by cordocentesis: rapid and accurate results within 24 hours. Ann. Genet. 41:69-72, 1998. [PubMed: 9706335]
    Case 6:
    46,XY,der(4)t(4;10)(p16;p11)mat
    Ambiguous genitalia and cleft palate was detected by ultrasound.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4p-;10p+
    Index Terms: Cordocentesis
  • Thoene J, Higgins J V, Krieger I, Schmickel R D, Weiss L: Genetic screening for mental retardation in Michigan. Am. J. Ment. Defic. 85:335-340, 1981. [PubMed: 7457497]
    45,XX,t(4;13)(p16;q13).
    Aberration: Simple translocation
    Negative band
  • Uehara S, Takabayashi T, Okamura K, Yajima A: The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier. Prenat. Diag. 12:1009-1018, 1992. [PubMed: 1287636]
    46,XX,t(4;11)t(p16;q23).&46,XX,+11q.
    The karyotype nomenclature of the fetus is not in conformity with ISCN (ie is it 11q+ or is it partial trisomy for 11q?).
    Aberration: Reciprocal translocation
    Negative band
  • Urioste M, Martinez-Frias M L, Bermejo E, Jimenez N, Romero D, Nieto C, Villa A: Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. AJMG 49:94-97, 1994. [PubMed: 7909650]
    46,XY,der inv(4)(p16q13.2)mat.
    Chromosomal disturbance may be related to the occurrence of SRPS in this patient.
    Aberration: Inversion pericentric
    MIM#: 263510
    Index Terms: Short rib polydactyly syndrome
    Negative band
  • Vamos E, Pratola D, van Regemorter N, Freund M, Flament-Durand J, Rodesch F: Prenatal diagnosis and fetal pathology of partial trisomy 20p-monosomy 4p resulting from paternal translocation. Prenat. Diag. 5:209-214, 1985. [PubMed: 2410900]
    46,XY,t(4;20)(p16;p12),inv(18)(p11q11).&"46,XX,-4,+der(4),t(4;20)(4qter -> 4p16::20q11 -> 20qter)pat."&"46,XY,der(4)der(20)t(4;20)(p16;q11)pat."&46,XY,der inv(18)(p11q11)pat.
    Aberration: Simple translocation
    Negative band
  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    Study done in couples with abortions or stillbirths.
    46,XY,t(4;7)(p16;p11).
    Aberration: Simple translocation
    Negative band
  • 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]
    46,XX,t(4;8)(p16;q22).
    Aberration: Reciprocal translocation
    Negative band
  • Wilson M G, Towner J W, Coffin G S, Ebbin A J, Siris E, Brager P: Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome. Hum. Genet. 59:297-307, 1981. [PubMed: 6949855]
    Data on 13 patients are presented; oldest patient was 24 years old. It is suggested that the critical deletion involved is within 4p16 band.
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
  • Zahed L, Sismani C, Ioannides M, Saleh M, Koumbaris G, Kenj M, Abdallah A, Ayyache M, Patsalis P.: Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/ 45,Xder(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion. AJMG Part A: DOI=10.1002/ajmg.a.31228, 2008. [PubMed: 18302279]
    46,X,t(Y;4)(q11.2;p16)dn[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10].
    The 13 year old patient was being evaluated because of short stature.
    Aberration: ST,ID
    Chromosomal Aneuploidy: 4p-
    Index Terms: t(Y,4)
Copyright © 2011-2013, Digamber Borgaonkar.
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