Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation

The fragile site Xq27-28 was observed in several individuals of a large family. It is expressed at a high frequency among the carrier females, even as adults, and in one clinically normal male. None of the members of this family is affected with the mental retardation normally linked to this fragile...

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Bibliographic Details
Published in:Human genetics 1989-03, Vol.81 (4), p.353-357
Main Authors: VOELCKEL, M. A, PHILIP, N, PIQUET, C, PELLISSIER, M. C, OBERIE, I, BIRG, F, MATTEI, M. GG, MATTEI, J. F
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosome Fragile Sites
Chromosome Fragility
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Down Syndrome - genetics
Female
Fragile X Syndrome - genetics
Genetic Markers
Heterozygote
Humans
Male
Medical genetics
Medical sciences
Pedigree
Polymorphism, Restriction Fragment Length
Sex Chromosome Aberrations - genetics
X Chromosome
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Summary:The fragile site Xq27-28 was observed in several individuals of a large family. It is expressed at a high frequency among the carrier females, even as adults, and in one clinically normal male. None of the members of this family is affected with the mental retardation normally linked to this fragile site. Cytogenetic and flanking DNA marker polymorphism studies suggest a possible dissociation between the fragile site and clinical expression of the disease.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00283690