Linked Life Data

3829444

Source:http://linkedlifedata.com/resource/pubmed/id/3829444

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1987-5-15
pubmed:abstractText
A familial inv(4)(p16q21) ascertained through a woman who had a thanatophoric dwarf daughter and two abortions is presented. She and 23 other relatives were carriers, but no recombinants were found. The proportion of abortions and neonatal deaths in carriers' offspring was similar to that in non-carriers. A random segregation of the inverted chromosome was observed. The analysis of the present and previous familial chromosome 4 pericentric inversions indicates that: the breakpoint in q, with a limit between q21 and q25 determines the occurrence of inherited unbalances, and most recombinant chromosomes have duplication of the larger distal segment.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
97-101
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Inv(4)(p16q21). A five-generation pedigree with 24 carriers and no recombinants.
pubmed:publicationType
Journal Article, Case Reports