A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13.

Abstract

Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Brain / abnormalities
  • Brain / diagnostic imaging
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 17*
  • Cohort Studies
  • Face / pathology
  • Female
  • Gene Dosage
  • Gene Frequency
  • Haplotypes
  • Humans
  • Intellectual Disability / epidemiology
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Magnetic Resonance Imaging
  • Male
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / physiopathology
  • Physical Chromosome Mapping
  • Polymorphism, Genetic*
  • Prevalence
  • Radiography
  • Receptors, Corticotropin-Releasing Hormone / genetics
  • Syndrome
  • tau Proteins / genetics

Substances

  • MAPT protein, human
  • Receptors, Corticotropin-Releasing Hormone
  • tau Proteins
  • CRF receptor type 1