Henegariu O, Kernek S, Keating M A, Palmer C G, Heerema N A
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Am J Med Genet. 1997 Mar 17;69(2):171-6. doi: 10.1002/(sici)1096-8628(19970317)69:2<171::aid-ajmg11>3.0.co;2-i.
A newborn male infant presented with midshaft hypospadias, chordee, and undescended left testis. Both gonads lacked the tunica albuginea and appeared to be adjacent to structures resembling fallopian tubes. On biopsy, there was marked dysgenesis of both gonads, with a paucity of testicular tubules and foci of ovarian-like stroma. Peripheral blood karyotype was 46,X,mar(Y) [39]/45,X [5]. Right gonadal biopsy material showed the same mosaicism but with a higher proportion of 45,X cells (46%). PCR and FISH analyses with primers/probes from different Yp, Yq, and Ycen loci defined the structure of the marker Y as a probable complex ring with breakpoints in Yq11.21 (very close to the centromere) and in Yp11.32 (the pseudoautosomal region). Based on the phenotype and the laboratory findings, the prognosis given to the patient was for short stature and azoospermia without an increased risk for gonadoblastomas.
一名男婴出生时患有阴茎中段尿道下裂、阴茎下弯和左侧睾丸未降。双侧性腺均缺乏白膜，且似乎与类似输卵管的结构相邻。活检显示双侧性腺明显发育不全，睾丸小管稀少，并有卵巢样间质灶。外周血核型为46,X,mar(Y)[39]/45,X[5]。右侧性腺活检材料显示相同的嵌合现象，但45,X细胞比例更高(46%)。使用来自不同Yp、Yq和Ycen位点的引物/探针进行PCR和FISH分析，确定标记Y的结构可能是一个复杂的环，断点位于Yq11.21(非常靠近着丝粒)和Yp11.32(假常染色体区域)。根据表型和实验室检查结果，该患者的预后为身材矮小和无精子症，患性腺母细胞瘤的风险未增加。
