Fluorescence in situ hybridization analysis is useful for the diagnosis of the carrier state of X-linked ichthyosis

International Journal of Dermatology

Volumn 47, Issue 5, 2008, Pages 529-530

  Hosomi, Naoko ^a   Fukai, Kazuyoshi ^a   Tanaka, Akemi ^a   Fujita, Hiroko ^a   Ishii, Masamitsu ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

STERYL SULFATASE;

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; DISEASE CARRIER; ENZYME ACTIVITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HEMIZYGOSITY; HUMAN; MALE; PRESCHOOL CHILD; X CHROMOSOME; X LINKED ICHTHYOSIS;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; FEMALE; HETEROZYGOTE DETECTION; HUMANS; ICHTHYOSIS, X-LINKED; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; STERYL-SULFATASE;

EID: 42449143016     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2008.03406.x     Document Type: Article

References (5)

1. Shapiro LJ, Yen P, Pomerantz D, et al. Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci USA 1989; 86: 8477-8481.
2. Tanaka A, Hirabayashi M, Ishii M, et al. Complementation studies with clinical and biochemical characterizations of a new variant of multiple sulphatase deficiency. J Inherit Metab Dis 1987; 10: 103-110.
3. Valdes-Flores M, Kofman-Alfaro SH, Jimemez-Vaca AL, et al. Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. Am J Med Genet 2001; 102: 146-148.
4. Migeon BR, Shapiro LJ, Norum RA, et al. Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature 1982; 299: 838-840.
5. Tagi H. Enzymatic activities of human lymphocyte arylsulfatase C. J Osaka City Med C 1988; 37: 913-929 (in Japanese, abstract in English).