Molecular cytogenetic studies of duplication 9q32-->q34.3 inserted into 9q13

Clin Genet. 1995 Sep;48(3):148-50. doi: 10.1111/j.1399-0004.1995.tb04075.x.

Abstract

Fluorescence in situ hybridization (FISH) studies using whole chromosome 9 painting probe, classical satellite (9q12-specific) probe and abl cosmid probe (locus: 9q34) were performed on a female infant who was born with multiple congenital anomalies and the karyotype 46,XX, 9q+. The results of FISH confirm the euchromatic nature of the extra material on the long arm of chromosome 9, and provide evidence that it is of chromosome 9 origin. The structural rearrangement has probably resulted from an insertion of a duplicated segment 9q32-->q34.3 into band q13, as shown by the abl cosmid probe. The clinical features in this patient are similar to the previously reported cases of partial trisomy 9q3.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosomes, Human, Pair 9*
  • DNA Transposable Elements*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Multigene Family*

Substances

  • DNA Transposable Elements