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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Bonfante A, Stella M, Rossi G: "Partial trisomy 4q: Two cases resulting from a familial translocation t(4;18)(q27;p11)." Hum. Genet. 52:85-90, 1979. [PubMed: 527978]46,XY,t(4;18)(q27;p11).&"46,XX or XY,der(18),t(4;18)(q27;p11)pat."&"46,XX or XY,der(18)t(4;18)(18qter -> 18p11::4q27 -> 4qter)."&A child aged 2 years and a women aged 42 years, with partial trisomy 4q are decribed in this report.Aberration: Reciprocal translocationNegative 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;6)(q27;p23); t(4;17)(q27;q21); t(4;18)(q27;q21).Aberration: Reciprocal translocationNegative band
- Cohen O, Cans C, Mermet M-A, Demongeot J, Jalbert P.: Viability threshold for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations. Hum. Genet. 93:188-194, 1994. [PubMed: 8112744]46,XY,der(18)t(4;18)(q27;q21).Case from European prenatal diagnosis register.Aberration: Reciprocal translocationNo band
- Datson N A, Semina E, van Staalduinen A A A, Dauwerse H G, Meershoek E J, Heus J J, Frants R R, den Dunnen J T, Murray J C, van Ommen G J B. : Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region. AJHG 59:1297-1305, 1996. [PMC free article: PMC1914859] [PubMed: 8940275]
Semina E V, Datson N A, Leysens N J, Zabel B U, Carey J C, Bell G I, Bitoun P, Lindgren C, Stevenson T, Frants R R, van Ommen G J, Murray J C.: Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. AJHG 59:1288-1296, 1996. [PMC free article: PMC1914874] [PubMed: 8940274]Patient LR:46,XX,t(4;11)(q27;q21)de novoThe patient has anterior segment abnormalities, dental hypoplasia, umbilical outpouching, developmental delay, and polydactyly.Aberration: Reciprocal translocationMIM#: 180500Index Terms: Rieger syndromeNegative band - del Valle Torrado M, Labarta J D, Migliorini A M: Interstitial deletion of the long arm of chromosome 4 in a patient with mental retardation and abnormal phenotype. J. Med. Genet. 19:477, 1982. [PMC free article: PMC1048970] [PubMed: 6185682]46,XY,del(4)(pter -> q27::q31 -> qter).Aberration: Interstitial deletionNegative band
- de Perdigo A, Gabriel-Robez O, Ratomponirina C, Rumpler Y: "Synaptonemal complex analysis in a human male carrier of a 4;6 translocation: heterosynapsis without previous homosynapsis." Hum. Genet. 86:279-282, 1991. [PubMed: 1997382]46,XY,t(4;6)(q27;q26).The 41 year old proband presented with reproductive failure.Aberration: Reciprocal translocationIndex Terms: SynapsisNegative band
- Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schoning M, Dufke A.: A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q24->?1q22 and partial monosomy 4q27->q28. Cytogenet. Genome Res. 103:17-23, 2004. [PubMed: 15004458]Father=46,XY,t(4;10;14)(4pter->4q27::10q11.2->10qter;10pter->10q11.2::14q24.1->14q13::4q28->4qter;14pter->14q13::4q28->4q27::14q24.1->14qter)de novo.,Patient=46,XY,der(4)(4pter->4q27::10q11.2->10qter)pat,der(10)(10pter->10q11.2::14q24.1->14q13::4q28->4qter)pat.The child had delayed motor development and muscular hypotonia.Aberration: Complex translocationChromosomal Aneuploidy: 4q-;14q+
- Jenkins M B, Boyd L: "Reciprocal translocation, 4q-;21p+, giving rise to Down''s syndrome." J. Med. Genet. 13:323-326, 1976. [PMC free article: PMC1013425] [PubMed: 134161]46,XX,t(4;21)(q27;p11).Case 000573 in this report.47,XX,-4,+der(4)+der(21)t(4;21)(q27;p11)mat.&Translocation data involving chromosome 21 were reviewed.Aberration: Simple translocationIndex Terms: Down syndrome (Trisomy 21)Negative band
- Knorr-Gartner H, Knorr K, Haas B: "Inherited translocation t(4q-;18q+) with unbalanced progeny of different types." Humangenetik 21:315-321, 1974. [PubMed: 4135065]46,XX and XY,t(4;18)(q27;q21).&"46,XX and XY,t(4;18)(4pter -> 4q27::18q21 -> 18qter;18pter -> 18q21::4q27 -> 4qter)."&"46,XX and XY,der(4)der(18)t(4;18)(q27;q21)mat and pat."&"46,XY,-18,+der(18)t(4;18)(q27;q21)mat."Aberration: Reciprocal translocationNegative band
- Lundin C, Zech L, Sjors K, Wadelius C, Anneren G.: Trisomy 4q syndrome: presentation of a new case and review of the literature. Ann. Genet. DOI=10.1016/S0003-3995(02)01117-6; 45:53-57, 2002. [PubMed: 12119211]46,XX,der(7)t(4;7)(q27;p22)de novo.The 13-year-old, born in 1988 of Swedish parents, had severe MR and growth retardation, hearing impairment as well as minor foot, thumb and facial anomalies.Aberration: Reciprocal translocationChromosomal Aneuploidy: 4q+
- Mann J, Wcislo K, 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. 482.46,XY,t(4;13)(q27;q22)mat.Aberration: Reciprocal translocationNegative band
- Mitchell J A, Packman S, Loughman W D, Fineman R M, Zackai E H, Patil S R, Emanuel B S, Bartley J A, Hanson J W: Deletions of different segments of the long arm of chromosome 4. AJMG 8:73-89, 1981. [PubMed: 7246608]4q27 -> 4q313.Aberration: Interstitial deletionNegative band
- Pfeiffer R A, Kessel E K, Soer K H: "Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21." Clin. Genet. 11:207-213, 1977. [PubMed: 138497]46,XX,t(4;21)(q27;q21).&"46,XX,t(4;21)(4pter -> 4q27::21q21 -> 21qter;21pter -> 21q21::4q27 -> 4qter)."Case 2, HS (591010) in this report.47,XX,+der(21)t(4;21)(q27;q21)mat.Aberration: Reciprocal translocationNegative band
- Stella M, Bonfante A, Ronconi G, Rossi G: "Partial trisomy 4q: Two cases with a familial translocation t(4;18)(q27;q23)." Hum. Genet. 47:245-251, 1979. [PubMed: 457114]Cases A and B in this report.46,XX and XY,-18,+der(18)t(4;18)(q27;q23)mat.&"46,XX and XY,-18,+der(18)t(4;18)(18pter -> 18q23::4q27 -> 4qter)mat."&Delineation of a definite 4q+ syndrome is difficult but a series of clinical features or constellation associated with this karyotype seems plausible.Two sisters III-2 and III-7 in the pedigree.46,XX,der(4)der(18)t(4;18)(q27;q23)?.&"46,XX and XY,der(4)der(18)t(4;18)(q27;q23)mat."Aberration: Simple translocationNegative band
- Stetten 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. 430.46,XY,t(4;7)(q27;q34)pat.Aberration: Reciprocal translocationNegative band
- Sullivan B A, Leana-Cox J, Schwartz S: Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization. AJMG 47:223-230, 1993. [PubMed: 8213910]Patient 2:46,XY,t(4;9)(q27;q21,2).Patient was ascertained during prenatal diagnosis and chorionic villi were used.Aberration: Reciprocal translocationIndex Terms: FISHNegative band
- Tonnies H, Stumm M, Wegner R-D, Chudoba I, Kalscheuer V, Neitzel H.: Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics. Cytogenet. Cell Genet. 93:188-194, 2001. [PubMed: 11528111]8/100 cases referred for evaluation of congenital malformations and dysmorphic features.Case 5=46,XX,der(4)del(4)(q27q28.3)ins(4;5),(4pter->4q27::5q33.1->5q34::4q28.3->4qter).Aberration: ID,IXChromosomal Aneuploidy: 4q-;5q+
- Wakui K, Nishida T, Masuda J I, Itoh T, Katsumata D, Ohno T, Fukushima Y: De novo interstitial deletion of 4q\46,XX,del(4)(q27q28.2)\ with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1. Jpn. J. Hum. Genet. 36:149-153, 1991. [PubMed: 1920913]46,XX,del(4)(pter -> q27::q28.2 -> qter)de novo.The 11 month old had MCA/MR.Aberration: Interstitial deletionMIM#: 111300Chromosomal Aneuploidy: 4q-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;10)(q27;q11.2).Aberration: Reciprocal translocationNegative band
- Wolff G, Back E, Arleth S, Rapp-Korner U: Genetic counseling in families with inherited balanced translocations: experience with 36 families. Clin. Genet. 35:404-416, 1989. [PubMed: 2736789]Case No. 22.46,XX and XY,t(4;11)(q27;p15).Aberration: Simple translocationNegative band
- Wouters C H, Van Bodegom T M, Moll H A, Govaerts L C P.: Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia. Ann. Genet. 42:160-165, 1999. [PubMed: 10526659]Proband, IV-2=46,XY,der(9)t(4;9)(q27;p24)mat.,46,XX and XY,rcp(4;9)(q27;p24) in 8 individuals in this family.The 8 mo proband had hypertelorism, micrognathia and abnormal ears.Aberration: Reciprocal translocationMIM#: 214800Chromosomal Aneuploidy: 4q+;9p-Index Terms: Choanal atresia
- 04q270 - Chromosomal Variation in Man04q270 - Chromosomal Variation in Man
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