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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
Pt 1
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pubmed:dateCreated |
1989-7-10
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pubmed:abstractText |
In man evidence of autosomal recessive disease is usually based on a high sib risk, absence of parent-child transmission and increased consanguinity. Discrimination from what are sometimes termed multifactorial disorders and their associated environmental effects is usually based on the latter having a lower recurrence risk, an increased recurrence risk after a second affected child and no increase in consanguinity. Another cause of familial disorders with recurrence restricted to sibs which has received little attention is germline mosaicism for a mutation expressed as a dominant. If, for example, an embryonic mutation resulted in half the precursors of the germ cells carrying a mutation with dominant expression, then the proportion of haploid nuclei conveying the mutation, which is the recurrence risk, would be a quarter. If severity precluded reproduction the disorder would tend to be classified as a recessive. While germline mosaicism will rarely be expressed with such a high recurrence risk, the estimation of this risk in rare disorders is difficult due to extreme and unpredictable bias in ascertainment.
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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 |
Jan
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pubmed:issn |
0003-4800
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
33-47
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pubmed:dateRevised |
2006-8-9
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pubmed:meshHeading | |
pubmed:year |
1989
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pubmed:articleTitle |
Familiarity, recessivity and germline mosaicism.
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pubmed:affiliation |
Genetics Laboratory, Department of Biochemistry, Oxford.
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pubmed:publicationType |
Journal Article,
Review
|