Chromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review

Gene. 2013 Sep 15;527(1):405-9. doi: 10.1016/j.gene.2013.06.009. Epub 2013 Jun 17.

Abstract

We present prenatal diagnosis of de novo 22q11.2 microdeletion syndrome using uncultured amniocytes in a pregnancy with conotruncal heart malformations in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TBX1, COMT, UFD1L, GNB1L and MED15 in the deleted region. We review the literature of chromosomal loci and genes responsible for conotruncal heart malformations and tetralogy of Fallot.

Keywords: 22q11.2 deletion syndrome; ASD; AVSD; CTHM; Conotruncal heart malformations; DGS; DORV; DiGeorge syndrome; FISH; MLPA; OMIM; Online Mendelian Inheritance in Man; Prenatal diagnosis; TOF; VCFS; VSD; aCGH; array comparative genomic hybridization; atrial septal defect; atrioventricular septal defect; conotruncal heart malformations; del; deletion; double-outlet right ventricle; fluorescence in situ hybridization; multiplex ligation-dependent probe amplification; tetralogy of Fallot; velocardiofacial syndrome; ventricular septal defect.

Publication types

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

MeSH terms

  • Abortion, Eugenic
  • Amniocentesis*
  • Amniotic Fluid / cytology
  • Comparative Genomic Hybridization
  • DiGeorge Syndrome / diagnostic imaging*
  • DiGeorge Syndrome / genetics
  • Female
  • Humans
  • Pregnancy
  • Ultrasonography