Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features

J Child Neurol. 2014 Mar;29(3):399-405. doi: 10.1177/0883073812471429. Epub 2013 Jan 22.

Abstract

Developmental delay and brain anomalies leading to significant morbidity and mortality are frequently caused by chromosomal rearrangements. We report on a familial unbalanced translocation resulting in distal monosomy 5p15.3-pter with trisomy 12q24.2-qter in 2 half siblings with cerebral dysgenesis, severe intellectual disability, dysmorphic features, progressive weakness, and atrophy of muscles.

Keywords: 12q trisomy; 5p monosomy; chromosomal; intrauterine growth retardation; karyotype; neurodevelopmental delay.

Publication types

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

MeSH terms

  • Brain / pathology
  • Child, Preschool
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 5*
  • Comparative Genomic Hybridization
  • Cytogenetic Analysis
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Face / abnormalities*
  • Family
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging
  • Male
  • Monosomy*
  • Trisomy*
  • Young Adult