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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
1987-9-11
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pubmed:abstractText |
We report a family in which Wolf-Hirschhorn syndrome in two children with partial monosomy of the short arm of chromosome 4 is the result of unbalanced segregation of a reciprocal 4;12 translocation in the mother. Studies with the DNA probe G8 show that the translocation breakpoint in this family is distal to the D4S10 locus. Previously reported cases of Wolf-Hirschhorn syndrome have involved the deletion of D4S10. These observations may prove helpful in the search for better genetic markers for Huntington's chorea, which maps close to D4S10.
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pubmed:commentsCorrections |
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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 |
Jul
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
24
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
410-2
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:3612716-Abnormalities, Multiple,
pubmed-meshheading:3612716-Bone Diseases, Developmental,
pubmed-meshheading:3612716-Child,
pubmed-meshheading:3612716-Chromosome Deletion,
pubmed-meshheading:3612716-Chromosome Mapping,
pubmed-meshheading:3612716-Chromosomes, Human, Pair 12,
pubmed-meshheading:3612716-Chromosomes, Human, Pair 4,
pubmed-meshheading:3612716-Female,
pubmed-meshheading:3612716-Humans,
pubmed-meshheading:3612716-Hypertelorism,
pubmed-meshheading:3612716-Infant,
pubmed-meshheading:3612716-Karyotyping,
pubmed-meshheading:3612716-Male,
pubmed-meshheading:3612716-Microcephaly,
pubmed-meshheading:3612716-Pedigree,
pubmed-meshheading:3612716-Syndrome,
pubmed-meshheading:3612716-Translocation, Genetic
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pubmed:year |
1987
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pubmed:articleTitle |
Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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