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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
|
pubmed:dateCreated |
1992-8-7
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pubmed:abstractText |
Cytogenetic and dermatoglyphic investigations were performed in a mother (M.B.) and her daughter (D.B.), who were both suffering from hypomelanosis of Ito (incontinentia pigmenti achromians; HI). Whereas quite normal chromosomal results could be obtained after culture of peripheral lymphocytes, a diploid/tetraploid mosaicism (46,XX/92,XXXX) was found in cultured skin-fibroblasts derived from a hypopigmented skin area of M.B., with a slowly decreasing tetraploidy rate in the course of passaging: #2 23%, #5 11%, #11 and #14 6% and #18 and #21 2%. In cultures of normally pigmented skin, only single tetraploid cells could be detected. Dermatoglyphic examinations in both patients showed single transverse creases, a high number of secondary creases and a longitudinal alignment of the main line A bilaterally, and there was a tricentric fingertip pattern on the right digit III of M.B., i.e. a pattern which occurs very seldom in human beings. The results are discussed in respect to the clinical-diagnostic overlap of HI and incontinentia pigmenti Bloch-Sulzberger.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0009-9163
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
41
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
309-14
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:1623628-Adult,
pubmed-meshheading:1623628-Cells, Cultured,
pubmed-meshheading:1623628-Child, Preschool,
pubmed-meshheading:1623628-Dermatoglyphics,
pubmed-meshheading:1623628-Diagnosis, Differential,
pubmed-meshheading:1623628-Female,
pubmed-meshheading:1623628-Fibroblasts,
pubmed-meshheading:1623628-Humans,
pubmed-meshheading:1623628-Incontinentia Pigmenti,
pubmed-meshheading:1623628-Lymphocytes,
pubmed-meshheading:1623628-Mosaicism,
pubmed-meshheading:1623628-Pigmentation Disorders,
pubmed-meshheading:1623628-Ploidies,
pubmed-meshheading:1623628-Skin
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pubmed:year |
1992
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pubmed:articleTitle |
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians).
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pubmed:affiliation |
Second Department of Internal Medicine, University of Vienna, Austria.
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pubmed:publicationType |
Journal Article,
Case Reports
|