alexa The spectrum of 4q-syndrome illustrated by a case series
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Genetic Syndromes & Gene Therapy

Author(s): Strehle EM, Gruszfeld D, Schenk D, Mehta SG, Simonic I

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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.

This article was published in Gene and referenced in Journal of Genetic Syndromes & Gene Therapy

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