Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes

Am J Med Genet A. 2006 Sep 15;140(18):1931-5. doi: 10.1002/ajmg.a.31421.

Abstract

Array comparative genomic hybridization (array CGH) analysis was conducted in chorionic villous samples from 20 first-trimester spontaneous abortions with G-banding normal chromosomes. A microarray, containing 2,173 BAC clones and covering the whole genome with a 1.5-Mb resolution, was constructed and used in the analysis. Two deletions were identified: a 1.4-Mb deletion at 3p26.2-p26.3 and a 13.7-Mb deletion at 13q32.3-qter. Reexamination of chromosome preparations from the sample with the 13.7-Mb deletion documented a mixture of cells with the 13q- chromosome and those with 46,XX chromosomes, the latter of which are likely to have been derived from contaminating decidual cells. This left the 1.4-Mb 3p deletion as the only instance with submicroscopic imbalance detected, giving a frequency of 1 in 19 (5%) G-banding normal abortions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Spontaneous / genetics*
  • Chromosome Aberrations
  • Chromosome Deletion*
  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 3 / genetics*
  • Female
  • Humans
  • Karyotyping
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis
  • Pregnancy
  • Pregnancy Trimester, First / genetics*