Tar A, Sólyom J, Györvári B, Ion A, Telvi L, Barbaux S, Souleyreau N, Vilain E, Fellous M, McElreavey K
Buda Children's Hospital, Budapest, Hungary.
Hum Genet. 1995 Oct;96(4):464-8. doi: 10.1007/BF00191807.
A case of a true hermaphrodite presenting with a karyotype of 46,X,del(X)(p21.1-->pter) is described. The testis-determining gene, SRY, was not detected in DNA prepared from either peripheral blood lymphocytes or from a gonad biopsy. The patient also presented with a series of discrete somatic abnormalities, including abnormal skin and retinal pigmentation, and mental retardation. The extent of the Xp deletion was mapped by Southern blotting. X chromosome replication studies of lymphoblast cells prepared from the patient indicated that the deleted X chromosome was inactivated in all cells examined. It is suggested that the phenotype of the patient is caused by the unmasking of a recessive allele(s) on the grossly intact X chromosome. The relationship between the Xp deletion, the intersex phenotype, and the possible role of an Xp locus involved in human sex determination is discussed.
本文描述了一例核型为46,X,del(X)(p21.1→pter)的真两性畸形病例。从外周血淋巴细胞或性腺活检制备的DNA中均未检测到睾丸决定基因SRY。该患者还出现了一系列离散的躯体异常，包括皮肤和视网膜色素沉着异常以及智力发育迟缓。通过Southern印迹法确定了Xp缺失的范围。对该患者制备的淋巴母细胞进行的X染色体复制研究表明，在所有检测的细胞中，缺失的X染色体均失活。提示该患者的表型是由大体完整的X染色体上隐性等位基因的暴露所致。讨论了Xp缺失、两性畸形表型以及Xp位点在人类性别决定中可能作用之间的关系。
