A Novel Sex Chromosome Mosaicism 45, X/45, Y/46, XY/46, YY/47, XYY Causing Ambiguous Genitalia

作者：Khan, Muhammad Riaz; Bukhari, Ihtisham; Tang Junxiang; Hui, Liu; Muhammad, Niaz; Fan, Cui; Zhu, Jiangsheng^*; Wu, Mian^*

来源：Annals of Clinical and Laboratory Science, 2017, 47(6): 761-764.

• Sex Chromosome Mosaicism
• Ambiguous Genitalia
• 45
• X/45
• Y/46
• XY/46
• YY/47
• XYY

Sex chromosomal mosaicism has been considered as a major cause of human sexual differentiation disorders, like partial virilization and ambiguous genitalia. 45, X/46, XX, 45, X/46, XY and 46, XY/47, XXY are three most common sex chromosome mosaics associated with human ambiguous genitalia. Here, we report the case of a 3-year-old boy with ambiguous genitalia, bilateral cryptorchidism, and with an inguinal hernia. G banded cytological karyotyping and FISH analyses revealed that the patient has extremely rare and novel sex chromosome mosaic 45, X/45, Y/46, XY/46, YY/47, XYY karyotype. These cells exist in different percentages, important for phenotypic appearance of the patient. This is a first report of an unusual mosaic karyotype causing ambiguous genitalia.

• 出版日期2017-11
• 单位河南大学; 陕西师范大学; 安徽医科大学; 河南省人民医院