额外小环状染色体的嵌合体现象。

Mosaicism for an extra small ring chromosome.

作者信息

Forabosco A, Guaraldi G, Baroncini A, Ferrari E, Bassi C

出版信息

Dev Med Child Neurol. 1980 Feb;22(1):92-6. doi: 10.1111/j.1469-8749.1980.tb04309.x.

DOI:10.1111/j.1469-8749.1980.tb04309.x

Abstract

A new case for mosaicism for an extra small ring chromosome is described in a 13-year-old girl with minimal phenotype anomalies and moderate mental retardation. The origin of the extra chromosome could not be determined either cytogenetically or clinically. The present case is compared with six similar cases in the literature.

摘要

本文描述了一名13岁女孩，其存在一条额外的小环状染色体的嵌合体现象，伴有轻微的表型异常和中度智力发育迟缓。额外染色体的起源在细胞遗传学或临床上均无法确定。本文将该病例与文献中的六个类似病例进行了比较。