Genotype-phenotype relationships in fragile X syndrome : a family study

Relationships between the measures of intellectual and physical status in the fragile X syndrome and the size of amplification of the fragile X-specific fragment, equivalent to the number of CCG repeats within the FMR1 locus, were studied by a maximum-likelihood scoring technique for analysis of ped...

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Bibliographic Details
Published in:	American journal of human genetics Vol. 53; no. 5; pp. 1064 - 1073
Main Authors:	LOESCH, D. Z, HUGGINS, R, HAY, D. A, GEDEON, A. K, MULLEY, J. C, SUTHERLAND, G. R
Format:	Journal Article
Language:	English
Published:	Chicago, IL University of Chicago Press 01-11-1993
Subjects:	550900 > Pathology Adolescent Adult BASIC BIOLOGICAL SCIENCES Biological and medical sciences CHEMICAL REACTIONS Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) CHROMOSOMES DNA family studies Female fragile X syndrome Fragile X Syndrome - genetics Fragile X Syndrome - psychology GENE MUTATIONS GENOTYPE genotype-environment interactions HETEROCHROMOSOMES HUMAN CHROMOSOMES HUMAN X CHROMOSOME Humans Intelligence - genetics Male man MATHEMATICS Medical genetics Medical sciences METHYLATION MUTATIONS NUCLEIC ACIDS ORGANIC COMPOUNDS Pedigree PHENOTYPE phenotypes REGRESSION ANALYSIS relationship Repetitive Sequences, Nucleic Acid STATISTICS X CHROMOSOME 550400 > Genetics Human Chromosome fragility Phenotype Statistical analysis Family study Genotype Maximum likelihood Fragile X syndrome
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