16p13.11 microduplication syndrome

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Alternate names[edit | edit source]

Dup(16)(p13.11); Trisomy 16p13.11

Definition[edit | edit source]

16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.

Epidemiology[edit | edit source]

It has been clinically and molecularly characterized in fewer than 20 patients.

Cause[edit | edit source]

  • This syndrome is caused by interstitial duplications encompassing 16p13.11.
  • The size of the rearrangements is variable.
  • The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity.
  • Two genes, NDE1 (nudE nuclear distribution gene E homolog 1) and NTAN1 (N-terminal asparagine amidase) included in the duplicated region may contribute to the neurobehavioral phenotype.
  • As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear.

Signs and symptoms[edit | edit source]

Behavioral abnormalities include attention deficit/hyperactivity disorder, aggression and disruptive temperament, and autistic spectrum disorders. Skeletal manifestations include hypermobility, craniosynostosis and polydactyly.

Clinical presentation[edit | edit source]

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

30%-79% of people have these symptoms

5%-29% of people have these symptoms

  • Aggressive behavior(Aggression)
  • Arachnodactyly(Long slender fingers)
  • Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
  • Autism
  • Coarctation of aorta(Narrowing of aorta)
  • Craniosynostosis
  • Dolichocephaly(Long, narrow head)
  • Pectus excavatum(Funnel chest)
  • Pes planus(Flat feet)
  • Schizophrenia
  • Tetralogy of Fallot
  • Transposition of the great arteries
  • Ventricular septal defect(Hole in heart wall separating two lower heart chambers)

Diagnosis[edit | edit source]

Treatment[edit | edit source]

NIH genetic and rare disease info[edit source]

16p13.11 microduplication syndrome is a rare disease.

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