Linked Life Data

2624253

Source:http://linkedlifedata.com/resource/pubmed/id/2624253

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1990-3-23
pubmed:abstractText
We have studied 7 males in one family with mild/moderate intellectual handicap, long thick ears, deep-set eyes, small testes, and post pubertal gynecomastia. The affected males and some of the heterozygous females also had tapering fingers and short, widely spaced flexed toes. The pedigree demonstrates X-linked recessive inheritance. The clinical manifestations are similar to those described in the Börjeson-Forssman-Lehmann (BFL) syndrome but differ in the degree of mental handicap and the absence of "dwarfism" and microcepaly. This milder manifestation may represent either phenotypic or genotypic variation. DNA marker studies demonstrated linkage to the DXS86, DXS51, and F9 cluster at Xq26-q27. The maximum lod score was 2.1 with DXS51, at theta = 0.0. Definite recombinants were observed between DXS10 (at Xq26 but proximal to DXS86), DXS105 (at Xq27 but distal to F9), and BFL. Thus, the regional localization for BFL is Xq26-q27 between DXS10 and DXS105.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
463-9
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.
pubmed:affiliation
Department of Medical Genetics, Prince of Wales Children's Hospital, Sydney, Australia.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't