18q- and 18q+ mosaicism in a mentally retarded boy

Am J Med Genet. 1994 Nov 15;53(3):296-9. doi: 10.1002/ajmg.1320530317.


A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, Pair 18*
  • Dwarfism / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Mosaicism*
  • Respiratory Tract Infections / genetics
  • Sister Chromatid Exchange