Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion | Zendy

Bick David P. | Zendy; Schorderet Daniel F. | Zendy; Price Paul A. | Zendy; Campbell Leslie | Zendy; Huff Robert W. | Zendy; Shapiro Larry J. | Zendy; Moore Charleen M. | Zendy

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Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

Author(s) -

Bick David P.,

Schorderet Daniel F.,

Price Paul A.,

Campbell Leslie,

Huff Robert W.,

Shapiro Larry J.,

Moore Charleen M.

Publication year - 1992

Publication title -

prenatal diagnosis

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.956

H-Index - 97

eISSN - 1097-0223

pISSN - 0197-3851

DOI - 10.1002/pd.1970120104

Subject(s) - chondrodysplasia punctata , kallmann syndrome , ichthyosis , steroid sulfatase , endocrinology , fetus , prenatal diagnosis , klinefelter syndrome , x chromosome , peroxisomal disorder , medicine , biology , genetics , pregnancy , gene , disease , steroid , peroxisome , covid-19 , hormone , infectious disease (medical specialty) , receptor

We report the prenatal diagnosis of a male fetus with X‐linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X‐linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.

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