Neonatal detection of 5p13.2 duplication and delineation of the phenotype

Am J Med Genet A. 2012 Apr;158A(4):877-81. doi: 10.1002/ajmg.a.35237. Epub 2012 Mar 9.

Abstract

A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array-CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum / genetics
  • Arachnodactyly / genetics
  • Chromosome Duplication / genetics*
  • Chromosomes, Human, Pair 5 / genetics*
  • Comparative Genomic Hybridization
  • Congenital Abnormalities / genetics
  • DNA Copy Number Variations
  • Excitatory Amino Acid Transporter 1 / genetics*
  • Genetic Testing / methods
  • Humans
  • Infant, Newborn
  • Karyotype
  • Kidney / abnormalities
  • Kidney Diseases / congenital
  • Kidney Diseases / genetics
  • Male
  • Muscle Hypotonia / genetics
  • Phenotype
  • Psychomotor Performance
  • Retrognathia / genetics

Substances

  • Excitatory Amino Acid Transporter 1
  • SLC1A3 protein, human

Supplementary concepts

  • Hereditary renal agenesis