Canto Patricia, Kofman-Alfaro Susana, Jiménez Ana Luisa, Söderlund Daniela, Barrón Consuelo, Reyes Edgardo, Méndez Juan Pablo, Zenteno Juan Carlos
Research Unit in Developmental Biology, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Cuauhtemoc Av 330, Col Doctores CP 06725, México, DF, México.
Cancer Genet Cytogenet. 2004 Apr 1;150(1):70-2. doi: 10.1016/j.cancergencyto.2003.08.011.
Turner syndrome (TS) is a disorder caused by partial or complete X-chromosome monosomy. Studies in TS patients with different karyotypes have demonstrated the presence of Y-chromosome-derived sequences (4-61%). Early detection of Y-chromosome sequences in TS is of great importance because of the high risk of gonadal tumor development. We investigated the presence of Y-chromosome sequences in TS patients with a 45,X karyotype. One hundred seven unrelated 45,X Mexican TS patients recruited between 1992 and 2003 were included. Y-chromosome-derived sequences were found by polymerase chain reaction in 10 (9.3%) patients. Six subjects underwent gonadectomy and in one of them a gonadoblastoma was found; another developed a gonadoblastoma with dysgerminoma. Because of the high proportion (33%) of gonadal tumors in patients with Y-chromosome sequences found among our patients of mestizo origin, adequate counseling regarding a gonadectomy should be given.
特纳综合征（TS）是一种由部分或完全X染色体单体性引起的疾病。对不同核型的TS患者的研究表明，存在Y染色体衍生序列（4%-61%）。由于性腺肿瘤发生风险高，早期检测TS患者中的Y染色体序列非常重要。我们调查了核型为45,X的TS患者中Y染色体序列的存在情况。纳入了1992年至2003年间招募的107名无关的墨西哥45,X核型TS患者。通过聚合酶链反应在10名（9.3%）患者中发现了Y染色体衍生序列。6名受试者接受了性腺切除术，其中1人发现了性腺母细胞瘤；另1人发展为伴有无性细胞瘤的性腺母细胞瘤。由于在我们的混血儿患者中发现有Y染色体序列的患者中性腺肿瘤比例较高（33%），因此应提供关于性腺切除术的充分咨询。
