16p13.11 microduplication syndrome

Alternate names

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

Definition

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

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

Cause

• 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

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

Clinical presentation

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

• Attention deficit hyperactivity disorder(Attention deficit)
• Global developmental delay
• Hand polydactyly(Extra finger)
• Intellectual disability(Mental deficiency)
• Joint hyperflexibility(Joints move beyond expected range of motion)
• Language impairment

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

• The duplications were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).
• The underlying mechanism is non-allelic homologous recombination (NAHR).

NIH genetic and rare disease info

• NIH info on 16p13.11 microduplication syndrome

16p13.11 microduplication syndrome is a rare disease.

This article is a stub. You can help WikiMD by registering to expand it. Editing is available only to registered and verified users. WikiMD is a comprehensive, free health & wellness encyclopedia.