Linked Life Data

3565475

Source:http://linkedlifedata.com/resource/pubmed/id/3565475

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1987-5-14
pubmed:abstractText
We have examined reproduction patterns in hemophilic men and carrier women seen at a hemophilia treatment center. The study group included 309 patients with hemophilia A or B: 194 adults and 115 children from 246 pedigrees; 93% of affected men and 96% of parents of affected children had received genetic counseling. In the collected pedigrees, 65% of affected males were born to women with family history of hemophilia. An additional 23% of mothers were later shown to be carriers. Fewer than 12% of cases could be due to a new mutation in the child. Among 209 hemophilia A carrier tests, 95% of obligate carriers were detectable, 87% of mothers of sporadic cases, 53% of sisters of hemophiliacs, and 24% of other relatives had a high risk of carriership. Of 49 high-risk women seen during or prior to pregnancy, one-half elected prenatal diagnosis. Amniocentesis was performed in 24 cases and 8 were referred for fetoscopy, resulting in 18 normal offspring. Among 25 pregnancies not tested, 14 continued and produced 3 affected males and 11 normal offspring. Of hemophilic men over age 25, 66% have married and 41% (62% of those married) have had children. These observations will serve as a baseline for assessing any change in reproductive patterns occurring with the introduction of new genetic techniques.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
591-8
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Reproductive choices in hemophilic men and carriers.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, U.S. Gov't, Non-P.H.S., Research Support, Non-U.S. Gov't