具有哈勒曼-施特雷夫综合征特征及4q缺失/14q重复的MCA/MR综合征

MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication.

作者信息

Fryns J P, Borghgraef M, Lemmens F, van den Berghe H

机构信息

Centre for Human Genetics, University of Leuven, Belgium.

出版信息

Clin Genet. 1993 Sep;44(3):146-8. doi: 10.1111/j.1399-0004.1993.tb03866.x.

DOI:10.1111/j.1399-0004.1993.tb03866.x

PMID:8275573

Abstract

In this report we present the clinical history and findings in a female newborn with 4q deficiency/14q duplication, the unbalanced product of a paternal t(4;14)(q33;q32). The clinical symptoms and signs observed in this child up to the age of 14 months were most compatible with the diagnosis of Hallermann-Streiff syndrome.

摘要

在本报告中，我们呈现了一名患有4q缺失/14q重复的女性新生儿的临床病史及检查结果，这是父源性t(4;14)(q33;q32)的不平衡产物。该患儿在14个月龄时观察到的临床症状和体征与哈勒曼-施特雷夫综合征的诊断最为相符。