具有45,X/46,X,idic(Y)/46,XY,idic(Y)核型的混合性性腺发育不全。

Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.

作者信息

Caglayan A O, Demiryilmaz F, Kendirci M, Ozyazgan I, Akalin H, Bittmann S

机构信息

Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey.

出版信息

Genet Couns. 2009;20(2):173-9.

PMID:19650415

Abstract

To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idic(Y)(q11.2) and 46, XY were observed. A markedly higher percentage of Y-containing cells was observed in the blood (68%), which was not considered to be the major reason why the case did not have distinct ambiguous genitalia. We suggest that study of cytogenetic and molecular mosaicism involving sex chromosomes may help to further unravel the mysterious process in mixed gonadal dysgeneic patients.

摘要

为了呈现伴有混合型性腺发育不全的新型核型、病因学方法以及性染色体嵌合疾病遗传咨询中的困难。我们报告了一名14岁男孩，其生殖器外观略有模糊。对他的外周血淋巴细胞进行了细胞遗传学和荧光原位杂交研究。结果观察到三种细胞系，即45,X、46,X,idic(Y)(q11.2)和46,XY。血液中含Y细胞的比例明显更高(68%)，但这并不被认为是该病例没有明显生殖器模糊的主要原因。我们认为，涉及性染色体的细胞遗传学和分子嵌合现象的研究可能有助于进一步揭示混合型性腺发育不全患者的神秘发病过程。