1号染色体间质缺失del(1)(q32 q42)：病例报告及文献复习

Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature.

作者信息

Sarda P, Lefort G, Taviaux S, Humeau C, Rieu D

机构信息

Department of Pediatrics and Medical Genetics, University of Montpelier, Hôpital Saint Charles, France.

出版信息

Clin Genet. 1992 Jan;41(1):25-7. doi: 10.1111/j.1399-0004.1992.tb03623.x.

DOI:10.1111/j.1399-0004.1992.tb03623.x

PMID:1633642

Abstract

We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal intestinal del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases published.

摘要

我们描述了一名患有多种先天性异常的女婴病例，该女婴被发现存在新发的1号染色体远端缺失（1）（q32 q42）。本文简要回顾了其他类似缺失报告的临床特征。由于已发表的病例数量有限，目前似乎还无法确定其特征性表型。