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

Eur J Med Genet. 2005 Jul-Sep;48(3):339-45. doi: 10.1016/j.ejmg.2005.04.010.

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 approximately 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.

Publication types

  • Case Reports
  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6 / genetics*
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Female
  • Genomic Instability
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics*
  • Oligonucleotide Array Sequence Analysis / methods
  • Syndrome