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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1997-9-25
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pubmed:abstractText |
Nonsyndromic cleft lip with or without cleft palate (CL+/-P) is a congenital orofacial anomaly that derives from an embryopathy with failure of nasal process and palatal shelves fusion. CL+/-P is one of the most common malformations, affecting 1/700-1/1000 live births among Caucasians. Early investigations have suggested that a clefting gene may be located on the short arm of chromosome 6 (6p), as well as in other regions. In this study, we analyzed a large sample of families by using eight PCR markers that map on chromosome region 6p23-p24. The admixture test, as implemented in the HOMOG program, was significant when tested against multipoint data (alpha = 0.60, P value 0.00004); the lod score calculated, assuming heterogeneity, was 3.60 at 1 cM telomeric to D6S259. Taken together these data demonstrate the presence of a locus for CL+/-P in the 6p23 chromosome region.
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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
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pubmed:issn |
0888-7543
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
216-20
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9244439-Chromosomes, Human, Pair 6,
pubmed-meshheading:9244439-Cleft Lip,
pubmed-meshheading:9244439-Cleft Palate,
pubmed-meshheading:9244439-European Continental Ancestry Group,
pubmed-meshheading:9244439-Female,
pubmed-meshheading:9244439-Genetic Linkage,
pubmed-meshheading:9244439-Humans,
pubmed-meshheading:9244439-Italy,
pubmed-meshheading:9244439-Lod Score,
pubmed-meshheading:9244439-Male,
pubmed-meshheading:9244439-Microsatellite Repeats,
pubmed-meshheading:9244439-Pedigree,
pubmed-meshheading:9244439-Polymerase Chain Reaction,
pubmed-meshheading:9244439-Polymorphism, Genetic,
pubmed-meshheading:9244439-Software
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pubmed:year |
1997
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pubmed:articleTitle |
Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate.
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pubmed:affiliation |
Institute of Histology and General Embryology, University of Ferrara, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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