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Prenatal diagnosis of trisomy 1q21‐qter: Case report and review of literature
Author(s) -
Machlitt Andrea,
Kuepferling Peter,
Bommer Christiane,
Koerner Hannelore,
Chaoui Rabih
Publication year - 2005
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.30588
Subject(s) - trisomy , prenatal diagnosis , partial trisomy , medicine , karyotype , genetics , pregnancy , biology , fetus , chromosome , gene
We report on a midtrimester fetus with multiple malformations, who was prenatally found to have pure partial trisomy 1q with duplication 1q21‐qter. Prenatal ultrasound at 23 gestational weeks demonstrated craniofacial dysmorphism, ventriculomegaly, hand anomalies, and multiple visceral anomalies including cardiac defect, duodenal atresia, omphalocele, and urethral obstruction in the fetus. After pregnancy termination, external morphologic examination confirmed the sonographic characteristics, but autopsy was refused. Cytogenetic analysis (GTG banding) and subtelomeric probes (FISH) demonstrated an aberrant karyotype 46,XY,der(1)(1qter → 1q21::1p36.3 → 1qter) in a total of 139 amniotic fluid cells. Trisomy of the long arm of chromosome 1 is a rare condition. Large duplications of almost the entire 1q had so far been described in five mosaic cases. The present case and review of the literature suggest that duplication 1q21‐qter is a serious condition with pre‐ or perinatal demise of all reported cases. This case further delineates the phenotype in trisomy 1q. © 2005 Wiley‐Liss, Inc.