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Gene. 2012 Sep 15;506(2):387-91. doi: 10.1016/j.gene.2012.06.087. Epub 2012 Jul 3.

The spectrum of 4q- syndrome illustrated by a case series.

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1
Institute of Human Genetics and Newcastle University, Newcastle upon Tyne, UK. strehle@doctors.org.uk

Abstract

Deletions of the long arm of chromosome 4 detectable by cytogenetic analysis (standard karyotyping), fluorescent in situ hybridisation (FISH), multiplex ligation-dependent probe amplification (MLPA) or comparative genomic hybridisation (CGH) cause 4q- syndrome. Here we describe 3 cases of 4q- syndrome which demonstrate the variations in clinical presentation, diagnosis and prognosis observed in this condition. Patient 1 was a female foetus diagnosed with del(4)(q33) following chorionic villus sampling (CVS) at 14 weeks, and the pregnancy was terminated at 18 weeks. Patient 2 was a 5-month-old boy with del(4)(q31.3) and complex congenital heart disease. He also had a duplication of chromosome 6p and died of cardiac failure. Patient 3 is a 2-year-old girl with mild dysmorphic features and an interstitial deletion del(4)(q22.1q23). She has no major malformations and only slight developmental delay.

PMID:
22771923
DOI:
10.1016/j.gene.2012.06.087
[Indexed for MEDLINE]
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