Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31

British Journal of Dermatology

Volumn 166, Issue 4, 2012, Pages 905-907

  Nagtzaam, I F ^a   Stegmann, A P A ^a,b   Steijlen, P M ^a   Herbergs, J ^b   Van Lent Albrechts, J A ^b   Van Geel, M ^a,b   Van Steensel, M A M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CHROMOSOME XP; CHROMOSOME XP22.31; COPY NUMBER VARIATION; DRY SKIN; ERYTHRODERMA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE MAPPING; GENOTYPE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPING; LETTER; LYMPHOCYTE; METAPHASE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TELOMERE; X CHROMOSOME; X LINKED ICHTHYOSIS;

ADOLESCENT; CHROMOSOMES, HUMAN, X; FEMALE; GENE DELETION; HOMOZYGOTE; HUMANS; ICHTHYOSIS, X-LINKED;

EID: 84859160971     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10685.x     Document Type: Letter

References (4)

1. Bonifas JM, Morley BJ, Oakey RE, et al. Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci USA 1987; 84: 9248-51.
2. Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol 2010; 63: 607-41.
3. Mevorah B, Frenk E, Müller CR, Ropers HH,. X-linked recessive ichthyosis in three sisters: evidence for homozygosity. Br J Dermatol 1981; 105: 711-17.
4. Lichter P, Cremer T, Borden J, et al. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 1988; 88: 224-34.