Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata,ichthyosis, and Kallmann syndrome due to an Xp deletion |
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| Authors: | David P Bick MD Daniel F Schorderet Paul A Price Leslie Campbell Robert W Huff Larry J Shapiro Charleen M Moore |
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| Institution: | 1. Department of Genetics, University of Washington, Seattle, Washington, U.S.A.;2. Department of Biology, University of California, San Diego, California, U.S.A.;3. Howard Hughes Medical Institute, Department of Pediatrics and Biological Chemistry, University of California, Los Angeles, California, U.S.A.;4. Departments of Pediatries, University of Texas Health Science, Center at San Antonio, Texas, U.S.A.;5. The Departments of Obstetrics and Gynecology, University of Texas Health Science, Center at San Antonio, Texas, U.S.A.;6. The Departments of Cellular and Structural Biology, University of Texas Health Science, Center at San Antonio, Texas, U.S.A. |
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| Abstract: | 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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| Keywords: | Chondrodysplasia punctata Steroid sulphatase deficiency Kallmann syndrome Neuronal migration Vitamin K |
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