An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review

作者：Peng, Di; Zhang, Yong-Sheng; Zhang, Xin-Yue; Hu, Cong; Liu, Mei-Han; Liu, Rui-Zhi^*

来源：Journal of Assisted Reproduction and Genetics, 2015, 32(1): 107-109.

DOI：10.1007/s10815-014-0376-z

• Monosomy X
• Azoospermia
• Infertility
• Ychromosome
• Cryptic translocation
• Sex determination

Patients with a karyotype of 45,X (monosomy X) normally display a female phenotype. However, in some rare cases, monosomy X is associated with maleness. Here we describe a case of a male with a 45,X karyotype and primary infertility, which prompted molecular investigation of the sex-determination gene SRY. @@@ Karyotyping was performed by GTG-banded chromosome analysis. The presence and location of SRY was investigated using PCR and FISH, respectively. @@@ PCR confirmed the presence of the SRY gene while FISH analysis demonstrated its location on the p arm of chromosome 13. These findings demonstrate that autosomal retention of SRY can be sub-microscopic and emphasize the importance of PCR and FISH in the genetic workup of the monosomic X male.

• 出版日期2015-1
• 单位吉林大学