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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1992-5-1
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pubmed:abstractText |
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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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0197-3851
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
12
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
19-29
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:1557308-Adult,
pubmed-meshheading:1557308-Amniocentesis,
pubmed-meshheading:1557308-Amniotic Fluid,
pubmed-meshheading:1557308-Arylsulfatases,
pubmed-meshheading:1557308-Blotting, Southern,
pubmed-meshheading:1557308-Brain,
pubmed-meshheading:1557308-Calcium-Binding Proteins,
pubmed-meshheading:1557308-Chondrodysplasia Punctata,
pubmed-meshheading:1557308-Chromosome Deletion,
pubmed-meshheading:1557308-Eunuchism,
pubmed-meshheading:1557308-Extracellular Matrix Proteins,
pubmed-meshheading:1557308-Female,
pubmed-meshheading:1557308-Gonadotropin-Releasing Hormone,
pubmed-meshheading:1557308-Humans,
pubmed-meshheading:1557308-Ichthyosis,
pubmed-meshheading:1557308-Karyotyping,
pubmed-meshheading:1557308-Kidney,
pubmed-meshheading:1557308-Olfactory Nerve,
pubmed-meshheading:1557308-Pregnancy,
pubmed-meshheading:1557308-Pregnancy Trimester, Second,
pubmed-meshheading:1557308-Prenatal Diagnosis,
pubmed-meshheading:1557308-Sex Chromosome Aberrations,
pubmed-meshheading:1557308-Steryl-Sulfatase,
pubmed-meshheading:1557308-Ultrasonography, Prenatal,
pubmed-meshheading:1557308-X Chromosome
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pubmed:year |
1992
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pubmed:articleTitle |
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.
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pubmed:affiliation |
Genetics and IVF Institute, Fairfax, Virginia 22031.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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