普拉德-威利综合征中的异常染色体。

Abnormal chromosome in Prader-Willi syndrome.

作者信息

Goh K, Herrmann M A, Campbell R G, Thompson D

出版信息

Clin Genet. 1984 Dec;26(6):597-601. doi: 10.1111/j.1399-0004.1984.tb01110.x.

DOI:10.1111/j.1399-0004.1984.tb01110.x

Abstract

A Prader-Willi Syndrome (PWS) patient was found to have an extra satellite chromosome, smaller than the normal Chromosome 22, in 60% of her metaphases. G- and C-bandings showed that the extra chromosome did not derive from a Chromosome 15 as has been reported in some PWS patients. Because of variation in chromosomal abnormalities in the PWS patients reported, it was concluded that the chromosomal abnormalities found in them may be a secondary phenomenon rather than the cause of PWS.

摘要

一名普拉德-威利综合征（PWS）患者在其60%的中期细胞中被发现有一条额外的卫星染色体，该染色体比正常的22号染色体小。G带和C带分析表明，这条额外的染色体并非如一些PWS患者所报道的那样源自15号染色体。由于已报道的PWS患者染色体异常存在差异，因此得出结论，他们所发现的染色体异常可能是一种继发现象，而非PWS的病因。