De novo triple segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple congenital anomalies

Am J Med Genet A. 2010 Mar;152A(3):784-8. doi: 10.1002/ajmg.a.33157.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Aneuploidy*
  • Cardiomyopathy, Hypertrophic, Familial / genetics*
  • Chromosome Banding
  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 4 / genetics*
  • Comparative Genomic Hybridization
  • Female
  • Genetic Association Studies
  • Humans
  • Infant
  • Muscle Hypotonia / genetics*
  • Spectral Karyotyping