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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
|
pubmed:dateCreated |
1986-11-25
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pubmed:abstractText |
Hypomelanosis of Ito (incontinentia pigmenti achromians), a sacrococcygeal complex dysembryoma, seizures, severe cerebral lesions, mental retardation, chorioretinal atrophy, hemihypotrophy of the body, and skeletal anomalies are reported in a female infant of North African origin. Karyotype analysis revealed mosaicism for a microdeletion of the proximal region of 15q similar to that observed in Willi-Prader syndrome. The possibility of gene assignment of Ito's disease or that it may represent a nonspecific marker for mosaicism are discussed.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Oct
|
pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
74
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
185-7
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:3464561-Chromosome Banding,
pubmed-meshheading:3464561-Chromosome Deletion,
pubmed-meshheading:3464561-Chromosomes, Human, Pair 15,
pubmed-meshheading:3464561-Female,
pubmed-meshheading:3464561-Genetic Markers,
pubmed-meshheading:3464561-Humans,
pubmed-meshheading:3464561-Infant,
pubmed-meshheading:3464561-Karyotyping,
pubmed-meshheading:3464561-Pigmentation Disorders
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pubmed:year |
1986
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pubmed:articleTitle |
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.
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pubmed:publicationType |
Journal Article,
Case Reports
|