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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1995-8-2
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pubmed:abstractText |
In the present communication we report on a family with three children affected by Seckel-syndrome with mental deficiency, microcephaly, micrognathia and severe growth deficiency. All patients had chromosome instability, which was employed for the prenatal diagnosis of a fourth fetus suspected as a potential Seckel syndrome patient, and one of them had additional hematological disorders. As this condition has been previously characterized as a Seckel syndrome subgroup we report our data concerning this distinct entity.
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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
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pubmed:issn |
1015-8146
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
37-41
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pubmed:dateRevised |
2006-7-6
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pubmed:meshHeading |
pubmed-meshheading:7794560-Abnormalities, Multiple,
pubmed-meshheading:7794560-Chromosome Aberrations,
pubmed-meshheading:7794560-Chromosome Fragility,
pubmed-meshheading:7794560-Dwarfism,
pubmed-meshheading:7794560-Fatal Outcome,
pubmed-meshheading:7794560-Female,
pubmed-meshheading:7794560-Folic Acid,
pubmed-meshheading:7794560-Hematologic Diseases,
pubmed-meshheading:7794560-Humans,
pubmed-meshheading:7794560-Infant, Newborn,
pubmed-meshheading:7794560-Male,
pubmed-meshheading:7794560-Sister Chromatid Exchange,
pubmed-meshheading:7794560-Syndrome
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pubmed:year |
1995
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pubmed:articleTitle |
Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability.
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pubmed:affiliation |
Laboratory of General Biology, University of Ioannina Medical School, Greece.
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pubmed:publicationType |
Journal Article,
Case Reports
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