Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

Am J Med Genet A. 2012 Jul;158A(7):1676-9. doi: 10.1002/ajmg.a.35351. Epub 2012 May 24.

Abstract

We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219 kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum / diagnosis
  • Agenesis of Corpus Callosum / genetics
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 21*
  • Comparative Genomic Hybridization
  • Congenital Abnormalities / diagnosis
  • Congenital Abnormalities / genetics
  • Craniofacial Abnormalities
  • Encephalocele / diagnosis
  • Encephalocele / genetics
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics
  • Face / abnormalities
  • Facies
  • Female
  • Humans
  • Infant
  • Karyotype
  • Magnetic Resonance Imaging
  • Neuroimaging
  • Polymorphism, Single Nucleotide
  • Syndrome

Supplementary concepts

  • Frontonasal dysplasia