title: The spectrum of 4q- syndrome illustrated by a case series.
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.
authors: Institute of Human Genetics and Newcastle University, Newcastle upon Tyne, UK. strehle@doctors.org.uk
authors: Eugen-Matthias
authors: EM
authors: Strehle
authors: Dariusz
authors: D
authors: Gruszfeld
authors: Daniel
authors: D
authors: Schenk
authors: Sarju G
authors: SG
authors: Mehta
authors: Ingrid
authors: I
authors: Simonic
authors: Taosheng
authors: T
authors: Huang
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods; D002894:Chromosomes, Human, Pair 4; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008957:Models, Genetic; D011247:Pregnancy; D014314:Trisomy