|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
1986-1-6
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|
pubmed:abstractText |
We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus.
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0340-6717
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
71
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
231-4
|
|
pubmed:dateRevised |
2004-11-17
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|
pubmed:meshHeading |
pubmed-meshheading:4065895-Child, Preschool,
pubmed-meshheading:4065895-Chromosome Banding,
pubmed-meshheading:4065895-Chromosome Mapping,
pubmed-meshheading:4065895-Chromosomes, Human, 16-18,
pubmed-meshheading:4065895-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:4065895-Female,
pubmed-meshheading:4065895-Humans,
pubmed-meshheading:4065895-Karyotyping,
pubmed-meshheading:4065895-Pigmentation Disorders,
pubmed-meshheading:4065895-Translocation, Genetic,
pubmed-meshheading:4065895-X Chromosome
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|
pubmed:year |
1985
|
|
pubmed:articleTitle |
Two cases of X/autosome translocation in females with incontinentia pigmenti.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
