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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 |