De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly

Am J Med Genet A. 2013 Mar;161A(3):632-6. doi: 10.1002/ajmg.a.35777. Epub 2013 Feb 7.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, Pair 19
  • Chromosomes, Human, Pair 9 / genetics*
  • Comparative Genomic Hybridization
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics
  • Craniosynostoses / diagnosis
  • Female
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / genetics
  • Infant, Newborn
  • Malformations of Cortical Development / diagnosis*
  • Malformations of Cortical Development / genetics
  • Monosomy*
  • Translocation, Genetic*
  • Trisomy / diagnosis*

Supplementary concepts

  • Chromosome 19, trisomy 19q