Linked Life Data

2016087

Source:http://linkedlifedata.com/resource/pubmed/id/2016087

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1991-5-20
pubmed:abstractText
We report molecular studies in 2 patients with Wolf-Hirschhorn syndrome, probing genomic DNA from the patients and their parents with markers that have been mapped to 4p16.3. One of the patients was heterozygous for alleles detected by probe F5.53, which maps to the centromeric end of the D4S10 locus, but hemizygous for loci located more distally. The region in common, which was deleted in both these patients, is within 4p16.3. This observation suggests that the gene(s) for Wolf syndrome may be contained within this region, and that the "critical segment" is located more distally than previous cytogenetic observations have suggested. Furthermore, we found that the deletion was of maternal origin in one patient, and of paternal origin in the other.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
86
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
481-3
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the telomere.
pubmed:affiliation
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
pubmed:publicationType
Journal Article