4号染色体短臂的间质缺失。一种不同于沃尔夫-赫希霍恩综合征的表型。
Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome.
作者信息
Fryns J P, Kleczkowska A, Lemmens F, Vandecasseye W, van den Berghe H
机构信息
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
出版信息
Ann Genet. 1989;32(1):59-61.
PMID:2751251
Abstract
In this paper we report a 3-month-old male newborn with marked hypotonia and an interstitial deletion of the short arm of chromosome 4 but with preservation of the 4p16 band (karyotype 46,XY,del(4)(pter----p15.3::p14----cen----qter). In contrast to patients with a pure 4p16 deletion this patient presented dysmorphic stigmata which were much more discrete than those found in the typical Wolf-Hirschhorn syndrome.
摘要
在本文中，我们报告了一名3个月大的男性新生儿，其肌张力明显低下，4号染色体短臂存在间质性缺失，但4p16带保留（核型为46,XY,del(4)(pter----p15.3::p14----cen----qter)）。与纯4p16缺失的患者不同，该患者出现了畸形体征，且比典型的沃尔夫-赫希霍恩综合征患者的体征更为隐匿。
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