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Gorlin Goltz Syndrome

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Sperm Donor's Hidden Mutation Linked to Child's Gorlin Syndrome
science17 hours ago

Sperm Donor's Hidden Mutation Linked to Child's Gorlin Syndrome

A mother who welcomed a baby via an anonymous sperm donor learns months after birth that the donor carried Gorlin syndrome, a rare genetic condition that increases cancer risk and was passed to her son. After genetic testing, the boy is diagnosed with Gorlin syndrome, highlighting gaps in donor screening for extremely rare mutations and underscoring the importance of donor disclosures and online support networks for affected families.