Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review

Clin Dysmorphol. 2012 Jul;21(3):172-176. doi: 10.1097/MCD.0b013e3283539fe5.
No abstract available

Publication types

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

MeSH terms

  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4 / genetics*
  • Comparative Genomic Hybridization
  • Epilepsy / diagnosis
  • Female
  • Genome, Human
  • Humans
  • Hypocalcemia / genetics*
  • Infant
  • Infant, Newborn
  • Malformations of Cortical Development, Group II / diagnosis
  • Malformations of Cortical Development, Group II / genetics*
  • Malformations of Cortical Development, Group II / pathology
  • Mucins / genetics
  • Salivary Proteins and Peptides / genetics
  • Ultrasonography

Substances

  • MUC7 protein, human
  • Mucins
  • Salivary Proteins and Peptides