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    Hum Genet. 1999 Jan;104(1):43-8.

    Xp deletions associated with autism in three females.

    Thomas NS, Sharp AJ, Browne CE, Skuse D, Hardie C, Dennis NR.

    Source

    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK.

    Abstract

    We report eight females with small deletions of the short arm of the X chromosome, three of whom showed features of autism. Our results suggest that there may be a critical region for autism in females with Xp deletions between the pseudoautosomal boundary and DXS7103. We hypothesise that this effect might be due either to the loss of function of a specific gene within the deleted region or to functional nullisomy resulting from X inactivation of the normal X chromosome.

    PMID:
    10071191
    [PubMed - indexed for MEDLINE]

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