PSEUDO-TRISOMY-13 SYNDROME WITH UPPER LIMB SHORTNESS AND RADIAL HYPOPLASIA

被引：9

作者：

BOLES, RG ^{[1
]}

TEEBI, AS ^{[1
]}

NEILSON, KA ^{[1
]}

MEYN, MS ^{[1
]}

机构：

[1] YALE UNIV,SCH MED,DEPT PATHOL,NEW HAVEN,CT 06510

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 05期

关键词：

HOLOPROSENCEPHALY; POSTAXIAL POLYDACTYLY; PSEUDO-TRISOMY-13; RADIAL HYPOPLASIA; LIMB SHORTNESS;

D O I：

10.1002/ajmg.1320440522

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral anomalies, upper limb shortness, and radial hypoplasia with normal chromosomes. We provide a brief review of the newly delineated "pseudo-trisomy 13 syndrome." Severe limb shortness of radial hypoplasia has not been described previously in this syndrome. The present case may expand the spectrum of the pseudo-trisomy 13 syndrome, or may represent a distinct entity.

引用

页码：638 / 640

页数：3

共 11 条

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