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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
|
pubmed:dateCreated |
1990-3-9
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pubmed:abstractText |
Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Jan
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pubmed:issn |
0148-7299
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
35
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
14-7
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:2301465-Abnormalities, Multiple,
pubmed-meshheading:2301465-Child,
pubmed-meshheading:2301465-Chromosome Aberrations,
pubmed-meshheading:2301465-Chromosome Banding,
pubmed-meshheading:2301465-Chromosomes, Human, Pair 22,
pubmed-meshheading:2301465-Genetic Markers,
pubmed-meshheading:2301465-Humans,
pubmed-meshheading:2301465-Karyotyping,
pubmed-meshheading:2301465-Male,
pubmed-meshheading:2301465-Mosaicism,
pubmed-meshheading:2301465-Pigmentation Disorders,
pubmed-meshheading:2301465-Ring Chromosomes
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pubmed:year |
1990
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pubmed:articleTitle |
Chromosome mosaicism in hypomelanosis of Ito.
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pubmed:affiliation |
Division of Medical Genetics, Children's Hospital, Pittsburgh, Pennsylvania.
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pubmed:publicationType |
Journal Article,
Case Reports
|