Fragile-X syndrome and skewed X-chromosome inactivation within a family: A female member with complete inactivation of the functional X chromosome

American Journal of Medical Genetics

Volumn 122 A, Issue 2, 2003, Pages 108-114

  Heine Suner D ^a   Torres Juan, L ^a   Morla M ^a   Busquets, X ^a   Barcelo F ^a   Pico G ^a   Bonilla, L ^b   Govea, N ^a   Bernues M ^a   Rosell, J ^a  

^a HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^b UNIVERSITAT DE LES ILLES BALEARS   (Spain)

Author keywords

Chromosome X inactivation; FMR1; FMRP; Fragile X; Mental retardation; Phenotype; XIST

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CPG ISLAND; CYTOGENETICS; FAMILY HISTORY; FEMALE; FMR1 GENE; FRAGILE X SYNDROME; GAZE; GAZE AVERSION; GENE; GENE EXPRESSION; GENE MUTATION; GENE SILENCING; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERACTIVITY; JAW MALFORMATION; LARGE EAR; MENTAL DEFICIENCY; METHYLATION; NUCLEOTIDE REPEAT; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROMINENT JAW; SCHOOL CHILD; SKEWED X CHROMOSOME INACTIVATION; SOUTHERN BLOTTING; SPEECH DISORDER; X CHROMOSOME; X CHROMOSOME INACTIVATION;

EID: 12444346768     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20160     Document Type: Article

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