Paternal 45, X/46, X, r(Y) karyotype which has both SRY and DAZ gene transmitted to twin fetus after intracytoplasmic sperm injection for oligozoospermia: A case report

摘要

To determine the chromosome karyotype between aborted chorionic villi tissue of twin fetus and their father's blood cells. Following cytogenetic investigation from aborted chorionic villi and blood cell, a mosaic karyotype of 45, X/46, X, r (Y) was discovered from both. Fluorescent in situ hybridization (FISH) confirmed the existence of the sex determining region of the Y chromosome (SRY), and a deletion in the azoospermia gene (DAZ) on the ring chromosome Y (r (Y)) from on either side of chorionic villi tissue and blood. This finding suggests that both miscarried fetus's r (Y) chromosome were inherited from the father. We strongly recommend chromosome analysis in all severely infertile men undergoing ICSI. The need for additional genetic screening for couples should be determined after genetic counseling and evaluation.