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Case Report
Prenatal diagnosis of a complex chromosomal rearrangement involving five chromosomes
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1
Department of Clinical Laboratory, Hubei Maternal and Child Health Hospital, Wuhan, Hubei, PR China
2
Department of Health Care, Hubei Maternal and Child Health Hospital, Wuhan, Hubei, PR China
3
Department of Medical Ultrasonics, Hubei Maternal and Child Health Hospital, Wuhan, Hubei, PR China
4
Department of Clinical Laboratory, Dongsheng Area People's Hospital, Ordos, Inner Mongolia, PR China
† These authors contributed equally.
Clin. Exp. Obstet. Gynecol. 2018, 45(5), 797–799;
https://doi.org/10.12891/ceog4401.2018
Published: 10 October 2018
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.
Keywords
Karyotype analysis
aCGH
Reciprocal translocation
Prenatal diagnosis