Molecular cytogenetic characterization and prenatal diagnosis of familial Xp22.33 microdeletion encompassing short stature homeobox gene in a male fetus with a favorable outcome

A 34-year-old, gravida 1, para 0, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. She had a body height of 150  cm. Her husband was 38 years old and had a body height of 170 cm. The woman had a family history of short stature. Her elder sister had a body height of 148 cm, and her parents had a body height of 145 cm. However, her brother had a body height of 165 cm. Amniocentesis revealed a karyotype of 46,XY. Array comparative genomic hybridization (aCGH) analysis of amniotic fluid revealed a result of arr Xp22.33 (581,803–795,716)×0–1 mat with a 213.9-kb Xp22.33 microdeletion encompassing only one Online Mendelian Inheritance in Man (OMIM) gene of short stature homeobox (SHOX).

Source: Taiwanese Journal of Obstetrics and Gynecology - April 1, 2017 Category: OBGYN Authors: Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Dai-Dyi Town, Meng-Shan Lee, Wayseen Wang Tags: Research Letter Source Type: research