对一名核型为46,XX/46,XY的真两性畸形患者的遗传标记进行研究。

Investigation of genetic markers in a true hermaphrodite with chi 46,XX/46,XY.

作者信息

Minowada S, Hara M, Shinohara M, Ishida H, Fukutani K, Isurugi K, Niijima T, Hayashida Y, Miki T, Kishi K

出版信息

Hum Genet. 1982;60(4):376-8. doi: 10.1007/BF00569224.

Abstract

We documented a new case of chi 46,XX/46,XY true hermaphroditism substantiated by the evaluation of chromosomal heteromorphism in banded preparations. The patient, a 12-year-old Japanese boy with ambiguous external genitalia, was seen because of abnormal breast development. Surgical exploration showed the right gonad to be an ovotestis and the left gonad to be an ovary. Cytogenetic studies revealed cell admixtures of 46,XX and 46,XY karyotypes in peripheral lymphocytes, skin fibroblasts, and gonadal fibroblasts. From the pedigree studies, the paternal double genetic contributions were evidenced by the differences of sex chromosomes and the blood group types for the ABO and MNSs systems in the two cell lines of the patient. The maternal double genetic contributions were confirmed by the inheritance of Q-fluorescent markers on chromosomes 13 and 22 and by alleles for the Kidd blood group system.

摘要

我们记录了一例新的46,XX/46,XY真两性畸形病例，通过对带型制备中的染色体异态性评估得以证实。该患者是一名12岁的日本男孩，外生殖器模糊不清，因乳房发育异常前来就诊。手术探查显示右侧性腺为卵睾，左侧性腺为卵巢。细胞遗传学研究揭示外周淋巴细胞、皮肤成纤维细胞和性腺成纤维细胞中存在46,XX和46,XY核型的细胞混合物。通过系谱研究，患者两个细胞系中性别染色体以及ABO和MNSs系统血型的差异证明了父系的双重遗传贡献。通过13号和22号染色体上Q荧光标记的遗传以及基德血型系统的等位基因证实了母系的双重遗传贡献。