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Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data

During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and f...

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Published in:American journal of human genetics 1994-11, Vol.55 (5), p.923-931
Main Authors: Hamel, B C, Smits, A P, de Graaff, E, Smeets, D F, Schoute, F, Eussen, B H, Knight, S J, Davies, K E, Assman-Hulsmans, C F, Oostra, B A
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container_issue 5
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container_title American journal of human genetics
container_volume 55
creator Hamel, B C
Smits, A P
de Graaff, E
Smeets, D F
Schoute, F
Eussen, B H
Knight, S J
Davies, K E
Assman-Hulsmans, C F
Oostra, B A
description During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected.
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subjects Adolescent
Adult
Base Sequence
Child
Chromosome Fragile Sites
Chromosome Fragility
DNA - analysis
Female
Fragile X Syndrome - genetics
Fragile X Syndrome - psychology
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability - genetics
Intellectual Disability - psychology
Intelligence Tests
Male
Middle Aged
Molecular Sequence Data
Pedigree
Phenotype
Repetitive Sequences, Nucleic Acid
X Chromosome
title Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data
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