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Disease found:49 XXXYY syndrome
Current as of:October 8, 2024
Disease Overview:Non-inherited disorder of chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. [more info]
Signs and Symptoms:Normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities, abnormal plantar dermatoglyphics, ambiguous genitalia, autistic behavior, delayed skeletal maturation [more info]
Diagnosis:Cytogenetics studies/karotype [more info]
Treatment:Supportive Treament Only [more info]
Clinical Management:Specialist referrals, psychological and hormone therapy [more info]
Referral:AXYS reccomends various clinics and physicians . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical Trials:Two clinical trials currently recruiting

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