银样综合征与13号染色体上的一个小缺失。

Silver-like syndrome and a small deletion on chromosome 13.

作者信息

Wahlström J, Holmgren G, Albertsson-Wikland K, Törnhage C J

机构信息

Department of Clinical Genetics, East Hospital, Gothenburg, Sweden.

出版信息

Acta Paediatr. 1993 Nov;82(11):993-6. doi: 10.1111/j.1651-2227.1993.tb12618.x.

DOI:10.1111/j.1651-2227.1993.tb12618.x

PMID:8111185

Abstract

A female child is described with features of Silver's syndrome, including pre- and postnatal growth delay, triangular face, hypertelorism, clinodactyly and developmental delay. In all lymphocytes analyzed, a small deletion was found in chromosome 13. The karyotype was 46,XX,del(13)(q22-32).

摘要

描述了一名患有Silver综合征特征的女童，包括出生前后生长发育迟缓、三角形脸、眼距过宽、手指弯曲和发育迟缓。在所有分析的淋巴细胞中，发现13号染色体有一个小的缺失。核型为46,XX,del(13)(q22 - 32)。