Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome

Am J Med Genet A. 2014 Aug;164A(8):2109-13. doi: 10.1002/ajmg.a.36548. Epub 2014 Apr 8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6*
  • Cleft Palate / diagnosis*
  • Cleft Palate / genetics*
  • Comparative Genomic Hybridization
  • Facies
  • Female
  • Fingers / abnormalities*
  • Genetic Association Studies
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / genetics*
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Phenotype
  • Syndrome
  • Urogenital Abnormalities / diagnosis*
  • Urogenital Abnormalities / genetics*

Supplementary concepts

  • Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly