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Article

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.

BMC medical genomics - 8 Apr 2021

Nardello Rosaria, Antona Vincenzo, Mangano Giuseppe Donato, Salpietro Vincenzo, Mangano Salvatore, Fontana Antonina

Abstract excerpt

BACKGROUND: Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. CASE PRESENTATION: We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic...

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Identifiers

PMID: 33832486
DOI: 10.1186/s12920-021-00934-x
PMCID: PMC8034074

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