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特纳综合征中45,X/46,X,r(?)嵌合体的G-11染色

G-11 staining in Turner's syndrome with mos 45,X/46,X,r(?).

作者信息

de Almeida J C, Llerena J C, Molina Gomes D, Rita Martins R, Jung M, Reis D F, Cunha A G

出版信息

Ann Genet. 1985;28(1):37-41.

PMID:2409888
Abstract

Mos 45,X/46,X,r(?) in 4 patients with Turner's syndrome and no signs of virilization, and in one pair of monozygotic twins, one of them with clitoral hypertrophy, was studied using combined cytogenetic techniques and specially G-11 staining for the characterization of the X or Y origin of the rings. In all 6 patients the ring was G-11 positive, attesting its Y origin. Both twins were operated and bilateral streak gonads with a bilateral nodule of testicular tissue were found. Similar small rings were also studied in one patient with mos 46,XX/46,X,r(X) and in one nonvirilized Turner's syndrome patient with a larger ring; in these two cases the ring was G-11 negative. It seems that the small rings occasionally found in Turner's syndrome are more frequently from Y origin and therefore prophylactic gonadectomy should be considered.

摘要

对4例无男性化体征的特纳综合征患者以及一对单卵双胞胎(其中一人有阴蒂肥大)中的mos 45,X/46,X,r(?)进行了研究,采用联合细胞遗传学技术,特别是G-11染色来鉴定环状染色体的X或Y来源。在所有6例患者中,环状染色体G-11呈阳性,证明其来源于Y染色体。这对双胞胎均接受了手术,发现双侧条索状性腺伴有双侧睾丸组织结节。在1例mos 46,XX/46,X,r(X)患者和1例环状染色体较大的无男性化特纳综合征患者中也研究了类似的小环状染色体;在这两例中,环状染色体G-11呈阴性。似乎特纳综合征中偶尔发现的小环状染色体更常来源于Y染色体,因此应考虑预防性性腺切除术。

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