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Monozygotic boys with fragile X syndrome

Published online by Cambridge University Press:  16 November 2000

Laurence Sheldon  and
Jeremy Turk
Laurence Sheldon
Affiliation:
South-West London and St. George's Mental Health NHS Trust, St George's Hospital, London, UK.
Jeremy Turk
Affiliation:
St. George's Hospital Medical School, London, UK.
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Abstract

Monozygotic twin boys with fragile X syndrome underwent thorough genetic, psychiatric, neurological, and language evaluations at 10 years of age. They both demonstrated physical features, speech and language difficulties, social problems, and attentional deficits that characterize the behavioural phenotype of fragile X syndrome. Despite identical genetic constitutions, there were important developmental and behavioural heterogeneities. Twin A showed less social interaction and symbolic play and more speech and language dysfunction than twin B. Twin A also had significantly larger caudate volumes. It is suggested that the Xq27.3 anomaly may not be sufficient to account for all the behavioural phenotypic and neuroanatomical features of fragile X syndrome.

Type
Case Reports
Information
Developmental Medicine and Child Neurology , Volume 42 , Issue 11 , November 2000 , pp. 768 - 774
Copyright
2000 Mac Keith Press

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