Linked Life Data

9391885

Source:http://linkedlifedata.com/resource/pubmed/id/9391885

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1998-1-30
pubmed:abstractText
Multiple supernumerary ring chromosomes are a rare cytogenetic finding which is poorly understood. With the introduction of FISH techniques, their chromosomal origin can now be defined clearly. The techniques described previously are complicated and time consuming. We report a new rapid technique which has been used to investigate two new cases. Multiple probes were hybridised to a single slide by means of marking the underside with a diamond pen to form a grid of squares, pipetting fixed cell suspension into the centre of each square, forming a rubber solution grid on the denatured, dehydrated slide following the lines on the underside, adding a mixture of probes into each square, and sealing the slide with a silicone rubber rim and a covering slide. The type of probe and the size, dimensions, and number of squares in the grid can be tailored to individual cases. The two new cases examined here are mosaic for three (case 1) and four (case 2) supernumerary ring chromosomes derived from different chromosomes. Normal cell lines were also present. The karyotypes were established as 47,XY,+r(4)/47,XY,+r(17)/.../48,XY,+r(17),+r(20)/ 49,XY,+r(4),+r(17),+r(20)/46,XY for case 1 and 47,XX,+r(4)/47,XX,+r(8)/47,XX,+r (10)/48,XX,+r(X),+r(4)/... /49,XX,+r(X),+r (8),+r(10)/46,XX for case 2. Our findings suggest that the ring chromosomes were formed during meiosis, perhaps involving complex rearrangements, resulting in a germ cell containing all markers, with subsequent loss of markers during cell division. Our second case also shows that the outcome is not invariably mental or physical handicap.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-1424236, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-1583656, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-2014800, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-3354607, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-3469138, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-3817812, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-3887915, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-7937078, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-8328459, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-8340114, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-8365720, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-8462972, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-8488848, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-8721571, http://linkedlifedata.com/resource/pubmed/commentcorrection/9391885-9147869
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
912-6
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique.
pubmed:affiliation
Division of Medical and Molecular Genetics, Guy's Hospital, London, UK.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't