Molecular genetic screening in cytogenetically normal mentally retarded males with manifestations of fragile X syndrome

Butler, Merlin G.; Pratesi, Riccardo

doi:10.1002/ajmg.1320510406

Am. J. Med. Genet.

1994

DOI: 10.1002/ajmg.1320510406

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Molecular genetic screening in cytogenetically normal mentally retarded males with manifestations of fragile X syndrome

Merlin G. Butler

Riccardo Pratesi

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1998

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Cited by 2 publications

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Retesting for fragile X syndrome in cytogenetically normal males

Mrcp¹,

Mrcp

1998

Develop Med Child Neuro

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'This case series describes four males who presented with learning and behavioural difficulties. In each case, the diagnosis of fiagile X syndrome was delayed because of an initial false-negative cytogenetic result. Although most children are currently investigited for fragile X syndrome using highly sensitive and specific molecular techniques, there still remain a large number of'older children who have been tested using only cytogenetic analysis. The clinical presentation of these four children and the reason for the occurrence of the false-negative results are considered. In addition, there is a discussion and illustration of how a screening checklist can be used to help clinicians to decide which children should be retested.Although routine karyoryping should still be performed when investigating children with learning difficulties, fragile X syndrome is now usually tested for using new molecular techniques looking for a C

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Retesting for fragile X syndrome in cytogenetically normal males

Mrcp¹,

Mrcp

1998

Develop Med Child Neuro

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Screening for Fragile X Syndrome: Information Needs for Health Planners

et al. 1997

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Molecular genetic screening in cytogenetically normal mentally retarded males with manifestations of fragile X syndrome

Cited by 2 publications

References 8 publications

Retesting for fragile X syndrome in cytogenetically normal males

Retesting for fragile X syndrome in cytogenetically normal males

Screening for Fragile X Syndrome: Information Needs for Health Planners

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