克兰费尔特综合征，嵌合型46,XX/46,XY/47,XXY/48,XXXY/48,XXYY：一例报告

Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report.

作者信息

Al-Awadi S A, Teebi A S, Krishna Murthy D S, Othman G, Sundareshan T S

出版信息

Ann Genet. 1986;29(2):119-21.

Abstract

A 35-year-old male was investigated for primary infertility. Clinical examination showed an intelligent man with normal facial appearance and moustache and small firm testes. Testicular histopathology revealed marked atrophy of the testes with no spermatogenesis and absence of germ cells. Hormonal profile showed elevated levels of FSH,LH and low levels of testosterone. Chromosome analysis from whole blood culture showed cells with 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY mosaicism. The predominant cell line was 47,XXY (87.86%). 46,XY/47,XXY mosaicism is not uncommon. However, mosaicism of multiple sex chromosome aneuploidy is rarely observed. This is the first report of mosaicism in Klinefelter's syndrome variant with five cell lines.

摘要

一名35岁男性因原发性不育接受检查。临床检查显示该男子智力正常，面部外观正常，有胡须，睾丸小而坚实。睾丸组织病理学检查显示睾丸明显萎缩，无精子发生，缺乏生殖细胞。激素水平显示促卵泡生成素（FSH）、促黄体生成素（LH）水平升高，睾酮水平降低。全血培养的染色体分析显示细胞存在46,XX/46,XY/47,XXY/48,XXXY/48,XXYY嵌合体。主要细胞系为47,XXY（87.86%）。46,XY/47,XXY嵌合体并不罕见。然而，多个性染色体非整倍体的嵌合体很少见。这是关于克兰费尔特综合征变体中具有五个细胞系的嵌合体的首次报告。