Eur J Med Genet.; auth. group Reymond

Eur J Med Genet. 2012 Feb 4. [Epub ahead of print]

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.


Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Center for Integrative Genomics, University of Lausanne, Genopode building, 1015 Lausanne, Switzerland.


The 2q3 duplication and 4q3 deletion syndromes are two conditions with variable phenotypes including Pierre-Robin sequence (PRS), limb anomalies, congenital heart defects (CHD), developmental delays and intellectual disabilities. We describe a patient born to a mother with a balanced t(2; 4) translocation who combines both a 2q34-qter duplication and a 4q34.2-qter deletion through inheritance of the derivative chromosome 4 (der(4)). He showed developmental delay, growth retardation, hearing problems, minor facial and non-facial anomalies, such as bilateral fifth finger shortness and clinodactyly, but no PRS or CHD. The comparison of his features with those of 46 and 65 published cases of 2q3 duplication and 4q3 deletion, respectively, allows us to further restrict the size of the proposed critical intervals for PRS and CHD on chromosome 4.

Copyright © 2012 Elsevier Masson SAS. All rights reserved.

PMID: 22370062 [PubMed – as supplied by publisher]