Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly

J Formos Med Assoc. 2004 May;103(5):385-7.


Deletion (14)(q11.2q13.1) is a rare cytogenetic abnormality associated with severe neurological deficit, microcephaly and psychomotor retardation. We report a case of de novo interstitial deletion of chromosome (14)(q11.2q13.1) in an 8-month-old girl, who presented with marked microcephaly, a nearly closed anterior fontanelle, dysmorphic facies, severe neurological deficits, and delayed developmental milestones. Three-dimensional computed tomography of the brain showed premature closure of the coronal suture and magnetic resonance imaging of the brain showed frontal atrophy and hypoplastic corpus callosum.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Agenesis of Corpus Callosum
  • Chromosomes, Human, Pair 14 / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Microcephaly / genetics*
  • Microcephaly / pathology
  • Taiwan