Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes

Am J Med Genet. 1994 Dec 1;53(4):321-4. doi: 10.1002/ajmg.1320530404.

Abstract

A del(11) (q24.2) was ascertained in a 2-year-old child and subsequently in her 20-year-old mother. Both mother and daughter had developmental delay, short stature, and "coarse" facial appearance. We compare our patients' manifestations to those associated with the distal 11q2 deletion phenotype ("Jacobsen" syndrome), and to the one other reported case of del(11)(q24.2). Our patients did not resemble this latter case, but had some findings in common with Jacobsen syndrome. We present our findings in order to contribute to the information on 11q2 deletions.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 11*
  • Family Health
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Phenotype
  • Syndrome