1q44 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

1q44 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm of chromosome 1 at position 44 is deleted.

Common symptoms

Facial dysmorphismdevelopmental delayin particular of expressive speechseizures and hypotonia.

WHEN TO SUSPECT

  • Recommendation 1

    Chromosome Microarray, Whole-Exome Sequencing, Cap CNV Analysis, Sybergreen Fluorescent Quantitative PCR

HOW TO TEST

  • Recommendation 1

    Chromosome Microarray, Whole-Exome Sequencing, Cap CNV Analysis, Sybergreen Fluorescent Quantitative PCR

TREATMENT

  • Recommendation 1

    Anti-seizure medication as needed

PRIMARY CARE

  • Recommendation 1

    Therapy and follow up with specialists as needed

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

Sources

No data available

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