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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- Anad F, Burn J, Matthews D, Cross I, Davison B C C, Mueller R, Sands M, Lillington D M, Eastham E: Alagille syndrome and deletion of 20p. J. Med. Genet. 27:729-737, 1990. [PMC free article: PMC1017275] [PubMed: 2074558]Case 1.46,XX,del(20)(p11.23 -> p13)de novo.Cases 4 and 5.46,XY,der del(20)(p11.23p12.2)mat.,46,XX,del(20)(p11.23p12.2).Five cases were reported, four had craniofacial, vertebral, ocular, and cardiovascular features.Aberration: TD,IDMIM#: 118450Chromosomal Aneuploidy: 20p-Negative band
- Petersen M B: Rare chromosome 20 variants encountered during prenatal diagnosis. Prenat. Diag. 6:363-367, 1986. [PubMed: 3774765]A three generation family with six carrier individuals was reported.46,XX or XY, inv(20)(p11.23q11.21).Aberration: Inversion pericentricNegative band
- Shohat M, Herman V, Melmed S, Neufeld N, Schreck R R, Pulst S, Graham J M, Jr, Rimoin D L, Korenberg J R: Deletion of 20p 11.23 to pter with normal growth hormone-releasing hormone genes. AJMG 39:56-63, 1991. [PubMed: 1867266]46,XX,del(20)(p11.23 -> pter)de novo.The patient had minor facial anomalies, Rieger eye anomaly, a congenital heart defect, severe failure to thrive, and a neurosecretory problem in growth hormone (GH) secretion.Also see Lalani et al (2009) cited under 20p12.3.Aberration: Terminal deletionMIM#: 180500,139190Chromosomal Aneuploidy: 20p-Negative band
- Zhang F, Deleuze J F, Aurias A, Dutrillaux A M, Hugon R N, Alagille D, Thomas G, Hadchouel M: Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). J. Ped. 116:73-77, 1990. [PubMed: 1967307]46,XY,del(20)(p11.23 -> p12.3).Aberration: Interstitial deletionMIM#: 118450Chromosomal Aneuploidy: 20p-Negative band
- 20p1123 - Chromosomal Variation in Man20p1123 - Chromosomal Variation in Man
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