Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and amenorrhoea

REPRODUCTIVE BIOMEDICINE ONLINE

卷:15

Article

Modi, Deepak ; Bhartiya, Deepa

关键词: amenorrhoea;    FISH;    gonadoblastoma;    mosaicism;    Turner syndrome;    Y chromosome;   

DOI  :  10.1016/S1472-6483(10)60387-2

来源: Elsevier

【 摘 要 】

In the present study, 73 cases with a clinical diagnosis of Turner syndrome, or with primary or secondary amenorrhoea without frank Turner phenotype, were evaluated for presence of low level Y chromosome mosaicism using molecular methods. Fluorescence in-situ hybridization for centromere and q arm of the Y chromosome and nested polymerase chain reaction for the sex determining region on Y (SRY) gene were performed in peripheral blood, buccal cells and gonadal biopsies. The overall frequency of Y chromosome mosaicism was found to be 18% (13/73 cases). Four cases (16%) of Turner syndrome had Y chromosome mosaicism, seven cases (28%) with primary amenorrhoea and two cases (9%) with secondary amenorrhoea had Y chromosome mosaicism. Histologically detectable gonadoblastorna was observed in one of seven cases (14%) that had Y chromosome mosaicism. This frequency is lower than that reported previously, underscoring the need for large prospective investigations to determine the frequency of Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and other forms of amenorrhoea.

【 授权许可】

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