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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 |
1987-10-22
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pubmed:abstractText |
Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translocations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely to subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.
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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:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0009-9163
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
32
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
66-9
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:3621656-Abnormalities, Multiple,
pubmed-meshheading:3621656-Child, Preschool,
pubmed-meshheading:3621656-Chromosome Aberrations,
pubmed-meshheading:3621656-Chromosome Disorders,
pubmed-meshheading:3621656-Chromosome Mapping,
pubmed-meshheading:3621656-Chromosomes, Human, Pair 10,
pubmed-meshheading:3621656-Female,
pubmed-meshheading:3621656-Humans,
pubmed-meshheading:3621656-Incontinentia Pigmenti,
pubmed-meshheading:3621656-Intellectual Disability,
pubmed-meshheading:3621656-Pigmentation Disorders,
pubmed-meshheading:3621656-Sex Chromosome Aberrations,
pubmed-meshheading:3621656-Translocation, Genetic,
pubmed-meshheading:3621656-X Chromosome
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pubmed:year |
1987
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pubmed:articleTitle |
Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
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