MOLECULAR CYTOGENETIC ANALYSIS OF INV DUP(15) CHROMOSOMES, USING PROBES SPECIFIC FAR THE PRADER-WILLI ANGELMAN SYNDROME REGION - CLINICAL IMPLICATIONS/

Authors
LEANACOX J JENKINS L PALMER CG PLATTNER R SHEPPARD L FLEJTER WL ZACKOWSKI J TSIEN F SCHWARTZ S
Citation
J. Leanacox et al., MOLECULAR CYTOGENETIC ANALYSIS OF INV DUP(15) CHROMOSOMES, USING PROBES SPECIFIC FAR THE PRADER-WILLI ANGELMAN SYNDROME REGION - CLINICAL IMPLICATIONS/, American journal of human genetics, 54(5), 1994, pp. 748-756
Citations number
29
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of human genetics → ACNP
ISSN journal
00029297
Volume
54
Issue
5
Year of publication
1994
Pages
748 - 756
Database
ISI
SICI code
0002-9297(1994)54:5<748:MCAOID>2.0.ZU;2-W
Abstract
Twenty-seven cases of inverted duplications of chromosome 15 (inv dup[ 15]) were investigated by FISH with two DNA probes specific for the Pr ader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A si gnificant association was found between the presence of this region an d an abnormal phenotype (P <.01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal pheno type.