Subtelomeric microduplications in three sisters with moderate mental retardation

Biochem Genet. 2010 Dec;48(11-12):909-14. doi: 10.1007/s10528-010-9371-y. Epub 2010 Sep 2.

Abstract

Copy number changes of subtelomeric regions are a common cause of mental retardation, occurring in approximately 5% of mentally retarded patients. New molecular techniques allow the identification of subtelomeric microduplications. We report a Tunisian family of three sisters with moderate mental retardation, facial dysmorphism, cardiopathy, and bilateral clinodactyly of the third and fourth toes, explored by MLPA, showing the same associated microduplications, 15q and Xq, without a concurrent deletion.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Black People
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, X*
  • Facies
  • Female
  • Gene Dosage
  • Genetic Testing
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Middle Aged
  • Nucleic Acid Amplification Techniques
  • Phenotype
  • Telomere / genetics*
  • Tunisia