The Turkish Journal of Pediatrics 2004 , Vol 46 , Num 4
Trisomy of 8q22.3~q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies

Department of Medical Biology and Genetics, Gazi University Faculty of Medicine, Ankara, Turkey

Department of Clinical Genetics, Hacettepe University İhsan Do.ramacı Children's Hospital, Ankara, Turkey

Institute of Clinical Genetics, Medical Faculty, Dresden University of Technology, Dresden, Germany

Abstract

Ergun MA, Balcı S, Konaç E, Kan D, Menevşe S, Bartsch O. Trisomy of 8q22.3~q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies. Turk J Pediatr 2004; 46: 384-387.

An 11-month-old boy was first referred with global developmental delay, pallor and heart defects (ASD, VSD, mitral and tricuspid valve insufficiency). He also had facial abnormalities. Standard karyotyping showed additional material on one chromosome 1p homolog, and fluorescence in situ hybridization (FISH) indicated an unbalanced translocation of 1pter~p36.33 and 8q22.3~q23. The breakpoint on 1p was found to reside very close to the telomere, making this a rare case of .almost pure. trisomy of 8q22.3~q23-qter, without a significant partial 1p36 monosomy by FISH technique. The patient.s face resembled the peculiar face in previously reported cases of 8q23-qter duplication. This report supports that critical gene(s) for cardiac septum formation reside on distal chromosome 8q. Keywords : cardiac septal defects mitral valve insufficiency tricuspid valve insufficiency unbalanced translocation distal 8q trisomy.

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