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Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype
Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype
In 2 families, propositi were investigated because of mild developmental delay and, in one case, behavior disorders. Seven males in the 2 families were found to have a fragile site at Xq27.3 but the usual insert in the FMR-1 gene was absent. The affected males had mild, or in some cases, no clear intellectual impairment and did not have the Martin-Bell phenotype. Carrier females in one family tended to show a high level of cytogenetic expression of the fragile site but were clinically normal.

It is not yet clear whether these families have unusual mutations in the FMR-1 gene or whether their fragile sites are different, but cytogenetically indistinguishable from, that associated with inserts in the FMR-1 gene
fragile X, FMR-1, X-linked, mental retardation, behavior disorder
1552-4841
232-236
Dennis, Nicholas R.
5b7279f1-9410-40f0-b868-7b1bdc4eccff
Curtis, Greta
7e66fb5e-d3b9-42db-affe-6f6727963221
Macpherson, James N.
1069e9a6-a4c5-47da-b08e-e370ce281502
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Dennis, Nicholas R.
5b7279f1-9410-40f0-b868-7b1bdc4eccff
Curtis, Greta
7e66fb5e-d3b9-42db-affe-6f6727963221
Macpherson, James N.
1069e9a6-a4c5-47da-b08e-e370ce281502
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b

Dennis, Nicholas R., Curtis, Greta, Macpherson, James N. and Jacobs, Patricia A. (1992) Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 43 (1-2), 232-236. (doi:10.1002/ajmg.1320430137).

Record type: Article

Abstract

In 2 families, propositi were investigated because of mild developmental delay and, in one case, behavior disorders. Seven males in the 2 families were found to have a fragile site at Xq27.3 but the usual insert in the FMR-1 gene was absent. The affected males had mild, or in some cases, no clear intellectual impairment and did not have the Martin-Bell phenotype. Carrier females in one family tended to show a high level of cytogenetic expression of the fragile site but were clinically normal.

It is not yet clear whether these families have unusual mutations in the FMR-1 gene or whether their fragile sites are different, but cytogenetically indistinguishable from, that associated with inserts in the FMR-1 gene

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More information

Published date: April 1992
Keywords: fragile X, FMR-1, X-linked, mental retardation, behavior disorder
Organisations: Faculty of Health Sciences

Identifiers

Local EPrints ID: 366299
URI: https://eprints.soton.ac.uk/id/eprint/366299
ISSN: 1552-4841
PURE UUID: fcc015a5-6b32-4a19-a001-865bda106f05

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Date deposited: 07 Jul 2014 12:55
Last modified: 18 Jul 2017 02:14

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Contributors

Author: Nicholas R. Dennis
Author: Greta Curtis
Author: James N. Macpherson
Author: Patricia A. Jacobs

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