Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 55, Issue 3, Pages 203-210Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2012.01.012
Keywords
2q3; 4q3; Translocation; Multiple congenital anomalies; Congenital heart defect; Pierre-Robin sequence
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Funding
- Iran Ministry of Health
- European Commission [037627]
- Swiss National Science Foundation
- Iran National Science Foundation (INSF) [87042100]
- Tehran University of Medical Sciences (TUMS) [8999]
- Genetic Office of Iran Ministry of Health
- Pasteur Institute of Iran
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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. (C) 2012 Elsevier Masson SAS. All rights reserved.
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