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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- 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]46,XX,del inv(1)(pter->p13.1::q21.1->p13.1::q21.1->q42.3:)The cell line is contributed by Dr. B. Emanuel of Philadelphia.Aberration: Inversion pericentricNo band
- Bisgaard A-M, Rasmussen L N, Moller H U, Kirchhoff M, Bryndorf T.: Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata. Clin. Dysmorphology 16: 109-112, 2007. [PubMed: 17351355]46,XX,ish cgh del(1)(p13.1p21.1)dnThe 13 year old patient had severe MR, short stature and dysmorphic features including colobomata.Aberration: Interstitial deletionChromosomal Aneuploidy: 1p-Index Terms: Colobomata
- Kleczkowska A, Fryns J P, Van den Berghe H: On the variable effect of mosaic normal/balanced chromosomal rearrangements in man. J. Med. Genet. 27:505-507, 1990. [PMC free article: PMC1017199] [PubMed: 2213843]Patient 1mos46,XY/46,XY,t(1;9)(p13.1;p12.2).&"46,XX,dert(1;9)(p13.1;p12.2)pat."The finding of the translocation was fortuitous. The fetuses were aborted spontaneously.Aberration: Reciprocal translocationNegative band
- lo I F M, Cheung L Y K, Ng A Y Y, Lam S T S.: Interstitial dup(1p) with findings of Kabuki make-up syndrome. AJMG 78:55-57, 1998. [PubMed: 9637424]The 8 yo patient was referred because of mild MR.46,XY,dup(1)(1qter->1p31::?::p22.1-1pter)de novoOther features present were small head, eversion of the lateral part of lower eyelids, epicanthic folds, lateral flare of the eyebrows, short columella, and persistent fetal finger pads.Aberration: DuplicationChromosomal Aneuploidy: 1p+Index Terms: Kabuki Make-up (Niikawa-Kuroki) syndrome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
- Ma G-C, Ke Y-Y, Lee M-L, Tsao L-Y, Lee D-J, Yang C-W, Kuo S-J, Chiu H-Y, Chen M.: De novo segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple anomalies. AJMG Part A: DOI=10.1002/ajmg.a.33157; 152A: 784-788, 2010. [PubMed: 20140964]46,XX,dup(1)(1p13p13)dn.arr 1p21.1p13.1(106737129-116445741)x3, der(4)t(1;4)(q32;q35)dn.ish der(4)t(1;4)(q44+,q35-).arr 1q32.2(205976659-247190770)x3, 4q35.1(184230890-191173881)x1.The girl died of pneumonia at age 16 months.Aberration: DU,TDChromosomal Aneuploidy: 1p+; 1q+; 4q-Index Terms: Triple segmental aneuploidy
- Schwartz S, Beisel J H, Panny S R, Cohen M M: A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome. Clin. Genet. 27:175-182, 1985. [PubMed: 3872186]46,XY,t(1;8;14)(1pter -> 1p13.1::14q12 -> 14pter;1qter -> 1p13.1::8q24.13 -> 8qter;14qter -> 14q12::8p23.3 -> 8q24.11:).Aberration: Complex translocationMIM#: 150230Index Terms: Langer-Giedion syndromeNegative band
- Tupler R, Maraschio P, Gerardo A, Mainieri R, Lanzi G, Tiepolo L: A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33 to 4q35.1. J. Med. Genet. 29:253-255, 1992. [PMC free article: PMC1015926] [PubMed: 1583646]46,XX,t(1;2;4;11)(2qter -> 2q11.2::1p13.1 -> 1q25::11p13 -> 11p11.11::1q25 -> 1qter;2pter -> 2q11.2::4q31.1 -> 4q33::4q35.1 -> 4qter; 4pter -> 4q31.1::11q13.1 -> 11q23::1p13.1 -> 1pter;11pter -> 11p13::11p11.11 -> 11q13.1::11q23 -> 11qter)de novo.Aberration: Complex translocationMIM#: 194050Index Terms: Williams syndromeNegative band
- Xu J, Fong C-T, Cedrone E, Sullivan J, Wang N.: Prenatal identification of de novo marker chromosomes using micro-FISH appoach. Clin. Genet. 53:490-496, 1998. [PubMed: 9712542]Case 3:47,XX,+r/46,XX.rev ish r(1)(p13.1q21.3)de novoThe infant had MCA and died 6 weeks after birth.Aberration: Ring chromosomeChromosomal Aneuploidy: 1p+;1q+
- 01p131 - Chromosomal Variation in Man01p131 - Chromosomal Variation in Man
- RecName: Full=EGF domain-specific O-linked N-acetylglucosamine transferase; AltN...RecName: Full=EGF domain-specific O-linked N-acetylglucosamine transferase; AltName: Full=Extracellular O-linked N-acetylglucosamine transferase; Flags: Precursorgi|81898120|sp|Q8BYW9.1|EOGT_MOUSEProtein
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