16p13.11 microduplication syndrome
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
- 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[edit | edit source]
- 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).
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
16p13.11 microduplication syndrome is a rare disease.
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