Abnormal myelination in a patient with deletion 14q11.2q13.1

Pediatr Neurol. 2000 Aug;23(2):170-2. doi: 10.1016/s0887-8994(00)00169-7.


A male carrying an interstitial deletion of chromosome 14, presumably del(14)(q11.2q13), and presenting with abnormal myelination on magnetic resonance imaging is described. The abnormal myelination was evidenced as a high-signal intensity on T(2)-weighted magnetic resonance imaging. The patient had severe neurologic signs, various dysmorphic features, and a marked microcephaly. To our knowledge, this case is the first patient reported with abnormal myelination and a deletion of chromosome 14.

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 14 / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Myelin Sheath / genetics*
  • Myelin Sheath / physiology