Three cases with enlarged acrocentric p-arms and two cases with cryptic partial trisomies

J Histochem Cytochem. 2005 Mar;53(3):359-60. doi: 10.1369/jhc.4B6407.2005.

Abstract

In three cases, banding analysis revealed a normal karyotype except for an enlarged short arm of one chromosome 13 or 15. To clarify whether this enlargement was due to a heteromorphism or to a cryptic chromosomal trisomy, so-called cenM-FISH probe sets containing a microdissection-derived probe specific for the acrocentric human p-arms were applied. The results enabled us to confirm in one case and to exclude in two cases that the enlargement on the suspect chromosome was due to a p-arm polymorphism. M-FISH and/or microdissection were used to resolve the nature of the rearrangements, i.e., partial trisomies 6 and 19.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 15*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male
  • Translocation, Genetic
  • Trisomy*
  • Ultrasonography, Prenatal