对两名XXXXY综合征患者的染色体显带研究。

Levy C L, Sparkes R S, Carlson H E

J Med Genet. 1978 Aug;15(4):301-5. doi: 10.1136/jmg.15.4.301.

In 2 adult male patients with 49 chromosomes, an XXXXY sex chromosome constitution was confirmed by trypsin-Giemsa banding sites. Clinical findings as well as fingerprint ridge counts were typical of the syndrome. Primary hypogonadism was documented by finding low serum testosterone and raised serum LH and FSH levels. Several radiological abnormalities, not previously described in this syndrome, were seen in 1 patient.

在2例成年男性49条染色体患者中，通过胰蛋白酶 - 吉姆萨带型分析确定其性染色体组成为XXXXY。临床症状以及指纹嵴计数均符合该综合征的典型表现。血清睾酮水平降低、促黄体生成素（LH）和促卵泡生成素（FSH）水平升高证实存在原发性性腺功能减退。在1例患者中发现了该综合征之前未描述过的几种放射学异常情况。