16p11.2 duplication

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Disease overview

Autosomal dominant or random mutation disorder caused by duplication on the 11.2 region of long arm of chromosome 16 causing varying mental and physical development deficits.

Common symptoms

Mental deficits/manifestations (delayed speech developmentautism spectrum disorderintellectual disabilitymotor delayanxietyADHDOCD) and physical deficits/manifestations (Arachnodactylydecreased body mass indexdeeply set eyesmicrocephalyflat facehypertelorismhyporeflexiahypotoniamicrotiashort stature)

WHEN TO SUSPECT

  • Recommendation 1

    Genetic testing using chromosomal microarray (CMA) and fluorescence in situ hybridization (FISH) can detect 16p11.2 duplication

HOW TO TEST

  • Recommendation 1

    Genetic testing using chromosomal microarray (CMA) and fluorescence in situ hybridization (FISH) can detect 16p11.2 duplication

TREATMENT

  • Recommendation 1

    Supportive Treatment Only

PRIMARY CARE

  • Recommendation 1

    Medicinal management and therapy can aid in long term management

FURTHER SUPPORT

  • Recommendation 1

    Physicians do not specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

Sources

No data available

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