hrp0095p2-273 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Isodicentric Y Chromosomes in Patients with Disorders of Sex Development

M Selveindran Nalini , SL Wong Jeanne , Hong YH Janet

Introduction: Isodicentric Y chromosome[idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45, X cell line.Methods: The aim of this study was to investigate the genotype and phenotype variability of patients with idic(Y). The clinical data from five patients was ext...