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

✍ Scribed by Chitayat, David; Babul, Riyana; Silver, Meredith M.; Jay, Venita; Teshima, Ikuko E.; Babyn, Paul; Becker, Laurence E.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
37 KB
Volume
61
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19960102)61:1<45::aid-ajmg9>3.0.co;2-w

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✦ Synopsis

We report on a terminal deletion of the long arm of chromosome 3 [46,XX,de1(3)(q27+qter)l 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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