Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females

Am J Med Genet. 1995 Jan 30;55(3):359-62. doi: 10.1002/ajmg.1320550322.

Abstract

We describe a familial paracentric inversion (X)(q21.2 q24) in a family with 2 male and 2 female carriers. The males were mentally retarded and the females were normal with normal ovarian function. It is suggested that a recessive mental retardation (MR) gene was disrupted by one of the inversion breakpoints, although an X-linked MR gene which by chance is linked to the inv(X) could not be ruled out. In the female carriers of the paracentric inversion a random X-inactivation was demonstrated. The normal ovarian function is an exception to the concept of "critical region" at Xq13-q26.

MeSH terms

  • Adolescent
  • Chromosome Inversion*
  • Deafness / genetics*
  • Dosage Compensation, Genetic
  • Female
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Middle Aged
  • Ovary / physiology
  • Pedigree
  • X Chromosome*