A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH)

Clin Genet. 1992 Aug;42(2):84-90. doi: 10.1111/j.1399-0004.1992.tb03145.x.

Abstract

In seven cases additional minute chromosomes studied by FISH were identified as no. 3, 11, 15, 18, 21 and X. Findings were unexpected except for partial trisomy 21 in an adolescent with minor features of Down's syndrome. Moreover, an i(18p) in a mentally retarded dysmorphic child and an idic(15) in a child with Fallot tetralogy was confirmed. In a child with r(21), a supernumerary marker was shown to be derived from no. 21, while in the mother an additional marker idic(22) was noted.

Publication types

  • Case Reports

MeSH terms

  • Amniocentesis
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 18
  • Chromosomes, Human, Pair 21
  • Chromosomes, Human, Pair 3
  • Down Syndrome / genetics
  • Facial Bones / abnormalities
  • Female
  • Genetic Markers
  • Humans
  • In Situ Hybridization
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Male
  • Microscopy, Fluorescence
  • Mosaicism
  • Pregnancy
  • Skull / abnormalities
  • Tetralogy of Fallot / genetics
  • X Chromosome*

Substances

  • Genetic Markers