35. Frequencies of Turner syndrome abnormalities as detected by high resolution chromosomal microarray in products of conception and postnatal blood samples

Abstract

Turner syndrome, which results from a complete or partial loss of chromosome X, occurs in 1 of 2,500 live female births. Despite the relatively mild postnatal phenotype, most cases result in miscarriage. This discrepancy in clinical outcome is not fully understood but may be explained by mosaicism and genetic alteration type. Previous studies of genetic abnormalities in Turner syndrome utilized standard cytogenetic techniques, which are limited in their capability to detect mosaicism. Here, we describe the types and frequencies of Turner syndrome abnormalities as detected by high resolution chromosomal microarray in products of conception (POCs) and postnatal blood samples.