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

A Rashidi-Nezhad, N Parvaneh, F Farzanfar, C Azimi, L Harewood, SM Akrami, A Reymond

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

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 and 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, facial and non-facial minor anomalies, such as 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.
Original languageEnglish
JournalEUROPEAN JOURNAL OF MEDICAL GENETICS
DOIs
Publication statusPublished - Mar 2012

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