Year: 2018
Type: article
Study design: Case Report
Abstract: The present authors report an exceptional complex chromosomal rearrangement involving five chromosomes. Cytogenetic analysis of cultured amniocytes revealed a unique karyotype of 46,X,t(X;13;9)(q13;q14;p22),t(3;6)(p13;q23) in 35/35 cultured amniocytes. Microarray- based comparative genomic hybridization (aCGH) revealed two microdeletions on chromosome Xq13.1-q13.2 and 13q14.2- q21.1 respectively. This study demonstrates the feasibility of using aCGH for prenatal diagnosis, especially in detecting subtle chromosomal abnormalities in high risk pregnancies.
Authors: Bo Wang, Dan Lu, Zuliang Shi, Jian Ke, Qi Zhao, Hongjun Li
Institution: Hubei Provincial Women and Children's Hospital
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W3042296355