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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1-6
|
| pubmed:dateCreated |
1978-7-24
|
| pubmed:abstractText |
Fraternal twins, offspring of consanguineous parents, developed pancytopenia, the boy at 7, the girl at 12 years of age. A third patient became anemic at 3 years. All three are free of associated malformations. In blood cultures the incidence of chromatid breaks, exchanges, and chromosome-type aberrations was elevated to 24%, 18%, and 28%, respectively. In addition, in a low number of mitotic cells unusual observations, pointing to profound disturbances of chromosome structure, were made. It is suggested that these patients have a genetic defect impairing the normal process of mitotic chromosome condensation and decondensation.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0301-0171
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
20
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
141-9
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:648172-Adolescent,
pubmed-meshheading:648172-Anemia, Aplastic,
pubmed-meshheading:648172-Child, Preschool,
pubmed-meshheading:648172-Chromosome Aberrations,
pubmed-meshheading:648172-Consanguinity,
pubmed-meshheading:648172-Diseases in Twins,
pubmed-meshheading:648172-Fanconi Anemia,
pubmed-meshheading:648172-Female,
pubmed-meshheading:648172-Humans,
pubmed-meshheading:648172-Male
|
| pubmed:year |
1978
|
| pubmed:articleTitle |
Fragility and spiralization anomalies of the chromosomes in three cases, including fraternal twins, with Fanconi's anemia, type Estren-Dameshek.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|