Interstitial 6q deletion: clinical and array CGH characterisation of a new patient

Abstract

We report on a patient with an interstitial 6q deletion presenting with moderate mental retardation, persisting hypotonia, facial dysmorphism, but no internal malformations. Standard cytogenetic analysis identified a de novo interstitial 6q deletion. Molecular karyotyping using a 1 Mb array estimated the size of the deletion at ≈ 14 Mb encompassing band q16 of chromosome 6. This case report illustrates how the molecular delineation enables improved genotype–phenotype correlations of chromosomal abnormalities to be made and may improve medical care and genetic counselling in individuals with chromosomal imbalances.