De novo duplication of chromosome 13(q32-q34) in a child with developmental delay

J Child Neurol. 2006 Dec;21(12):1084-5. doi: 10.1177/7010.2006.00229.

Abstract

We report the case of a child affected by a duplication of chromosome 13(q32-q34). This cytogenetic abnormality is rarely described in the literature. The description of our patient's characteristics might contribute to a better phenotype definition.

MeSH terms

  • Chromosome Aberrations / embryology*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / physiopathology
  • Chromosomes, Human, Pair 13 / genetics*
  • DNA Mutational Analysis
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Face / abnormalities
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Intellectual Disability / physiopathology
  • Male
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / physiopathology
  • Mutation / genetics*
  • Neurologic Examination
  • Psychomotor Disorders / diagnosis
  • Psychomotor Disorders / genetics
  • Psychomotor Disorders / physiopathology
  • Seizures / diagnosis
  • Seizures / genetics
  • Seizures / physiopathology
  • Syndrome