Journal article
De novo 1q32q44 duplication and distal 1q trisomy syndrome
Abstract
We report on an infant with minor anomalies and a de novo 1q duplication. The chromosomal abnormality was diagnosed prenatally after sonographic detection of cerebral ventriculomegaly and bilateral choroid plexus cysts in the fetus. The amniocentesis showed an abnormal male karyotype, 46,XY,dup(1)(q32q44), subsequently confirmed by fluorescence in situ hybridization using whole chromosome paint 1 and comparative genomic hybridization. The baby, …
Authors
Nowaczyk MJM; Bayani J; Freeman V; Watts J; Squire J; Xu J
Journal
American Journal of Medical Genetics Part A, Vol. 120A, No. 2, pp. 229–233
Publisher
Wiley
Publication Date
July 15, 2003
DOI
10.1002/ajmg.a.20028
ISSN
1552-4825