Literature DB >> 8741917

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

D Chitayat1, R Babul, M M Silver, V Jay, I E Teshima, P Babyn, L E Becker.   

Abstract

We report on a terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)] in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compared to those of four previously reported cases with terminal del (3q).

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Year:  1996        PMID： 8741917     DOI： 10.1002/(SICI)1096-8628(19960102)61:1<45::AID-AJMG9>3.0.CO;2-W

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

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Authors:  D A Koolen; W M Nillesen; M H A Versteeg; G F M Merkx; N V A M Knoers; M Kets; S Vermeer; C M A van Ravenswaaij; C G de Kovel; H G Brunner; D Smeets; B B A de Vries; E A Sistermans
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3.  Dilated cardiomyopathy in a 3-year-old girl with a terminal deletion, 46,XX,del(3)(q27-qter), of the long arm of chromosome 3.

Authors:  Hideaki Senzaki; Mika Inui; Shin-Ichi Ban; Satoshi Masutani; Mofeed Morsy; Toshiki Kobayashi; Hironori Nagasaka; Nozomu Sasaki; Shunei Kyo; Yuji Yokote
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  10 in total

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