Horn L-C, Limbach A, Hoepffner W, Tröbs R B, Keller E, Froster U-G, Richter C E, Jakubiczka S
Institute of Pathology, Division of Perinatal and Gynecologic Pathology, University of Leipzig, Liebigstrasse 26, Leipzig D-04103, Germany.
Pediatr Dev Pathol. 2005 Mar-Apr;8(2):197-203. doi: 10.1007/s10024-004-1013-0. Epub 2005 Mar 8.
To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was carried out to detect Y chromosomal sequences. From peripheral blood samples of 5 patients who had cytogenetically confirmed UTS, genomic DNA was extracted and screened for Y chromosomal sequences by polymerase chain reaction. The morphology of the gonadal tissues was compared with results from polymerase chain reaction. Three phenotypic females showed UTS mosaicism with normal X chromosome accompanied by Y chromosomal material, and 2 patients showed marker chromosomes. Molecular analysis represented loci PABY, SRY, ZFY, TSPY, DYZ3, DYZ1 DXYS, 19Y, DYS-273, DYS-148, DYS218, DYS224, and DYZ1. Three patients showed gonadal tumors (1 with unilateral gonadoblastoma, 1 with unilateral dysgerminoma, and 1 patient had both tumors in 1 gonad). Molecular genetic screening for Y chromosomal sequences may be useful as an additional tool for the identification of patients at risk for a gonadal tumor. Careful, complete processing, including step sectioning, of the gonadectomy specimens to detect small lesions is recommended.
为了识别患有乌尔里希 - 特纳综合征（UTS）且有性腺母细胞瘤或相关生殖细胞肿瘤风险的患者，进行了分子遗传学分析以检测Y染色体序列。从5例经细胞遗传学确诊为UTS的患者外周血样本中提取基因组DNA，并通过聚合酶链反应筛选Y染色体序列。将性腺组织的形态与聚合酶链反应结果进行比较。3名表型女性表现为UTS嵌合体，伴有正常X染色体及Y染色体物质，2例患者表现出标记染色体。分子分析检测了PABY、SRY、ZFY、TSPY、DYZ3、DYZ1、DXYS、19Y、DYS - 273、DYS - 148、DYS218、DYS224和DYZ1等基因座。3例患者出现性腺肿瘤（1例单侧性腺母细胞瘤，1例单侧无性细胞瘤，1例患者同一性腺中同时存在这两种肿瘤）。对Y染色体序列进行分子遗传学筛查可能是识别有性腺肿瘤风险患者的一种辅助工具。建议对性腺切除标本进行仔细、完整的处理，包括连续切片，以检测小病变。
