An unusual fragile X sibship: Female compound heterozygote and male with a partially methylated full mutation

Clinical Genetics

Volumn 54, Issue 4, 1998, Pages 309-314

  Russo, S ^a,b   Briscioli, V ^a   Cogliati, F ^a   Macchi, M ^a   Lalatta, F ^a   Larizza, L ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

Compound heterozygote; Counselling; Fragile X; Methylation

Indexed keywords

DNA;

ARTICLE; CLINICAL ARTICLE; COGNITIVE DEFECT; DNA METHYLATION; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; HETEROZYGOTE; HUMAN; INHERITANCE; INTELLIGENCE QUOTIENT; MALE; PRIORITY JOURNAL; SIBLING;

CHROMOSOME FRAGILITY; CYTOGENETICS; DNA; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HETEROZYGOTE; HUMANS; INTELLIGENCE; INTELLIGENCE TESTS; MALE; METHYLATION; MUTATION; NERVE TISSUE PROTEINS; NEUROPSYCHOLOGICAL TESTS; NUCLEAR FAMILY; PEDIGREE; RNA-BINDING PROTEINS; SEX FACTORS; TRINUCLEOTIDE REPEAT EXPANSION; X CHROMOSOME;

RAPHIA FRATER;

EID: 0031785622     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1998.5440408.x     Document Type: Article

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