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Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

Abstract：

:Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic suture, long and markedly curved eyelashes, a stubby nose, increased distance between nose and upper lip, high-arched palate, misshapen ears with virtually absent lobules and prominent anthelices which are curved in a sharp angle, and hemangiomata. Features present in 2 cases were microcephaly, long and narrow fingers with convex nails, and hexadactyly. Two cousins were unbalanced offspring of a large family of carriers of a 9/13 translocation, whereas the third case exhibited a 13p+ chromosome which was formed de novo. The clinical features in the 3 patients are typical of the syndrome due to partial trisomy for the distal segment of chromosome 13 which shows selected and mitigated signs of full trisomy 13.

journal_name

Hum Genet

journal_title

Human genetics

authors

Schinzel A,Hayashi K,Schmid W

doi

10.1007/BF00569970

keywords:

subject

Has Abstract

pub_date

1976-04-15 00:00:00

pages

1-12

issue

1

eissn

0340-6717

issn

1432-1203

journal_volume

32

pub_type

杂志文章

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