19p13.12 microdeletion syndrome

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This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

A 19p13.12 microdeletion is a very rare genetic condition, in which there is a tiny piece from the region known as p13.12, on chromosome 19.

Common symptoms

Physical structure abnormalities (Anteverted naresArrhythmiaAtrial septal defectBrachycephalyBroad foreheadClinodactyly of the 5th finger)speech development delayand seizures

WHEN TO SUSPECT

  • Recommendation 1

    Microarray comparative genomic hybridisation (array CGH) and FISH used for diagnosis

HOW TO TEST

  • Recommendation 1

    Microarray comparative genomic hybridisation (array CGH) and FISH used for diagnosis

TREATMENT

  • Recommendation 1

    ASM are used to treat seizures

PRIMARY CARE

  • Recommendation 1

    ASM, therapy, and sometimes surgical interventions can be used for long term management

FURTHER SUPPORT

  • Recommendation 1

    No specific physicians 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

  • Recommendation 1

    One clinical study going on now, register here

Sources

No data available

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