Linked Life Data

7656589

Source:http://linkedlifedata.com/resource/pubmed/id/7656589

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1995-10-4
pubmed:abstractText
A male patient with Turner-like hydrops in the newborn period (Bonnevie-Ullrich syndrome) was studied. The karyotype was 46,X,t(Y;16)(q11.2;q24) in 100 cells. Chromosome painting with the heterochromatic Y chromosome-specific long arm repeat DYZ2 disclosed that all the hybridization was on the derivative 16. This was confirmed by chromosome painting with DYZ1, the other major Y long arm heterochromatic repeat, and DYZ3, the Y alphoid, centromeric repeat which showed chromosomal separation of the 2 stained regions. To further localize the breakpoint, FISH was performed using individual YACs from a Y-YAC contig (Foote et al., 1992). This disclosed two YACs (yOX111 and yOX123) which hybridized to both the Y and der16 chromosomes. The YACS spanning the translocation breakpoint region were located just proximal to the Y heterochromatin boundary. The recent discovery of a candidate gene for the azoospermia factor (AZF) in this region (Ma et al., 1993) suggests the possibility that there are several Y-expressed genes adjacent to the heterochromatin boundary (as there are near the pseudoautosomal boundary) which may include a gene involved with lymphedema which is disrupted by the translocation in this patient.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0301-0171
pubmed:author
pubmed:issnType
Print
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
163-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome.
pubmed:affiliation
Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona, Tucson 85724, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't