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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2000-6-28
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pubmed:abstractText |
We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-1360704,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-1384048,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-2014264,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-2333913,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-2511002,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-2769728,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-2884728,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-3344216,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-3728564,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-4175169,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-8413254,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762554-8912525
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1705-9
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:10762554-Abnormalities, Multiple,
pubmed-meshheading:10762554-Body Height,
pubmed-meshheading:10762554-Body Weight,
pubmed-meshheading:10762554-Child, Preschool,
pubmed-meshheading:10762554-Chromosome Mapping,
pubmed-meshheading:10762554-Chromosomes, Human, Pair 16,
pubmed-meshheading:10762554-Consanguinity,
pubmed-meshheading:10762554-Fatal Outcome,
pubmed-meshheading:10762554-Female,
pubmed-meshheading:10762554-Genes, Recessive,
pubmed-meshheading:10762554-Haplotypes,
pubmed-meshheading:10762554-Heterozygote,
pubmed-meshheading:10762554-Humans,
pubmed-meshheading:10762554-Hydranencephaly,
pubmed-meshheading:10762554-Infant,
pubmed-meshheading:10762554-Lod Score,
pubmed-meshheading:10762554-Male,
pubmed-meshheading:10762554-Microcephaly,
pubmed-meshheading:10762554-Odds Ratio,
pubmed-meshheading:10762554-Pedigree,
pubmed-meshheading:10762554-Turkey
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pubmed:year |
2000
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pubmed:articleTitle |
The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.
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pubmed:affiliation |
Department of Molecular Biology and Genetics, Bo?aziçi University, Bebek 80815, Istanbul, Turkey.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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