Talk to Geneticist on Hemihypertrophy
Asking for Self, Female, 18 years old, Islamabad/Rawalpindi
Surgery/Treatment needed. We can not find any surgeons that can perform treatment for this condition. Would appreciate guidance.
Dr. Obaid Hayat - Geneticist
PHD Biotechnology, M.PHIL Molecular Biology | Timergara
first need to evaluating the patient and their family to determine whether the condition is isolated (non-syndromic) or part of a genetic syndrome particularly (BWS)Beckwith Wiedemann syndrome, which is the most commonly associated condition.
genetic testing options,
CDKN1C sequencing (especially if familial BWS is suspected).
UPD testing (paternal uniparental disomy of chromosome 11.
Chromosomal microarray if other anomalies are present.
For patients with hemihypertrophy or BWS:
Abdominal ultrasound every 3 months until age 7–8 (for Wilms tumor, hepatoblastoma)
AFP (Alpha-fetoprotein) testing every 6 weeks to 3 months until age 4 (for hepatoblastoma
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