A boy with developmental delay and a maternally inherited deletion in 15q11q13

J Med Genet. 1996 May;33(5):422-5. doi: 10.1136/jmg.33.5.422.

Abstract

A boy was referred at 8 weeks of age for failure to thrive. Cytogenetic and molecular studies showed that he had a large proximal deletion of the maternally derived chromosome 15q. He did not have Angelman syndrome, but at 2 years of age was severely globally delayed. He died at 2 1/2 years of age.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15*
  • Failure to Thrive / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • Male
  • Pedigree