Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH)

Gene. 2012 Mar 10;495(2):178-82. doi: 10.1016/j.gene.2011.12.050. Epub 2012 Jan 3.

Abstract

Trisomy 12p syndrome is a rare chromosomal abnormality, which presents with facial dysmorphism, moderate to severe psychomotor retardation and generalized hypotonia. Here we present the prenatal sonographic findings investigated of a fetus in prenatal diagnosis with a de novo trisomy of 12p identified by array-comparative genomic hybridization (aCGH).

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Adult
  • Chromosomes, Human, Pair 12
  • Comparative Genomic Hybridization
  • Female
  • Fetal Death / genetics
  • Humans
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • Trisomy / diagnosis*
  • Trisomy / genetics*
  • Ultrasonography, Prenatal

Supplementary concepts

  • Chromosome 12, 12p trisomy