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Diagnosis: Hypotonia, hypogonadism, hyperphagia, skin picking, agression. Allelic anomaly?

User Onkami
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Final answer:

The collection of symptoms including hypotonia, hypogonadism, hyperphagia, and behavioral issues, along with mention of an allelic anomaly, suggests Prader-Willi Syndrome. It's a genetic disorder caused by the absence of paternal genes on chromosome 15. Diagnosis relies on both observable symptoms and genetic testing.

Step-by-step explanation:

The symptoms described such as hypotonia, hypogonadism, hyperphagia, skin picking, and aggression, along with allelic anomalies, suggest a diagnosis of Prader-Willi Syndrome (PWS). PWS is a complex genetic disorder involving the absence of paternal genes on chromosome 15 due to deletion, maternal uniparental disomy, or imprinting defects.

This condition is characterized by developmental delays, distinctive facial features, and other abnormalities in addition to the symptoms listed in the question. While genetic testing is essential for confirming the diagnosis, the observable symptoms are also indicative of this syndrome.

Early signs like poor muscle tone and poor sucking behavior during infancy progress to developmental delays, followed by excessive eating and cognitive deficits as the individual ages. The combination of clinical signs and the absence of certain genetic markers confirms the diagnosis of PWS.

User Joe Shanahan
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