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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
|
pubmed:dateCreated |
1976-9-25
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pubmed:abstractText |
A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote for a complex translocation involving chromosomes 9, 21 and 22. The phenotypically normal sister of the proposition is also carrier of the same complex translocation.
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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 |
Jul
|
pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
7
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
73-6
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:939560-Child,
pubmed-meshheading:939560-Chromosome Aberrations,
pubmed-meshheading:939560-Chromosomes, Human, 21-22 and Y,
pubmed-meshheading:939560-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:939560-Humans,
pubmed-meshheading:939560-Male,
pubmed-meshheading:939560-Pedigree,
pubmed-meshheading:939560-Phenotype,
pubmed-meshheading:939560-Translocation, Genetic,
pubmed-meshheading:939560-Trisomy
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pubmed:year |
1976
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pubmed:articleTitle |
Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome.
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pubmed:publicationType |
Journal Article,
Case Reports
|