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Updated: Aug 19, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
A boy with 46, X, del, Y, due to a de nove mutation
Abstract:
A newborn male referred for genetic investigation because of a large sized head and dysplastic ears, but with apparently normal male genitalia was found to have a deletion of all of the brightly fluorescent part of the long are of chromosome Y and absence of the Y fluorescent body on buccal smear. His father and his two brothers had normal Y chromosomes. Social and family history as well as marker investigation make illegitimacy most unlikely and leaves an occurrence of a new chromosomal mutation in the father the most probably interpretation. Follow-up of the infant to the age of 9 months revealed a large baby with normal development.
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