Family with partial monosomy 10p and trisomy 10p

Am J Med Genet. 1995 Mar 27;56(2):136-40. doi: 10.1002/ajmg.1320560204.


We report on a family with an abnormality of 10p. The propositus has monosomy for the distal region of 10p and severe psychomotor delay, growth failure, congenital heart defect, multicystic kidney, grade V vesicoureteric reflux, and neurosensory hearing loss. The mother and the elder brother of the propositus carry a balanced reciprocal translocation (5q;10p)(q35.3;p12.3). A retarded and epileptic maternal aunt was found to have dup(10p). Study of the family history led to the successful obstetric management of a subsequent twin pregnancy in which an affected fetus with dup(10p) was identified and selectively terminated, while the other normal twin was delivered at term without problems.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 10*
  • Chromosomes, Human, Pair 5
  • Hearing Loss, Sensorineural / genetics
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Kidney / abnormalities
  • Male
  • Monosomy*
  • Pedigree
  • Psychomotor Disorders / genetics
  • Translocation, Genetic
  • Trisomy*