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| Disease found: | 17q12 deletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal dominant or random mutation in which there is a small missing piece of genetic material on the long arm of chromosome 17 [more info] |
| Signs and Symptoms: | Autism/intellectual disability and physical structure abnormalities: Multicystic kidney dysplasia, Short stature, Cerebral atrophy [more info] |
| Diagnosis: | FISH analysis, quantitative PCR (qPCR), multiplex ligation-dependent probe amplification (MLPA), or other targeted quantitative methods may be used to test for 17q12 recurrent deletion. [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Surgery/transplant can be used for kidney abnormalities and dysfunction [more info] |
| Referral: | 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: | One clinical study going on now, register here |