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De novo 1q32q44 duplication and distal 1q trisomy syndrome
Author(s) -
Nowaczyk Małgorzata J.M.,
Bayani Jane,
Freeman Viola,
Watts John,
Squire Jeremy,
Xu Jie
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20028
Subject(s) - hypertelorism , amniocentesis , anatomy , trisomy , gene duplication , fluorescence in situ hybridization , comparative genomic hybridization , medicine , biology , fetus , prenatal diagnosis , chromosome , genetics , pregnancy , gene
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, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, short and downward‐slanting palpebral fissures, a high‐arched and narrow palate, malformed ears, and long feet with overriding second and third toes. This is the sixth case of known duplication involving the 1q32q44 segment; the physical findings in the case reported herein are similar to those of other patients reported previously, providing further evidence of the existence of the “distal 1q trisomy” phenotype. © 2003 Wiley‐Liss, Inc.