Müllerian agenesis syndrome is not due to any genetic alteration, but to a defect in fetal development. Therefore, girls born with this pathology have a normal karyotype (46,XX), i.e. they have 46 chromosomes like the rest of humans and the sex chromosomes are XX, typical of the female sex.
What karyotype do women with Rokitansky syndrome have?
By Zaira Salvador B.Sc., M.Sc. (embryologist).
Last Update: 07/08/2022
Bachelor's Degree in Biotechnology from the Technical University of Valencia (UPV). Biotechnology Degree from the National University of Ireland en Galway (NUIG) and embryologist specializing in Assisted Reproduction, with a Master's Degree in Biotechnology of Human Reproduction from the University of Valencia (UV) and the Valencian Infertility Institute (IVI)