Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.
Twenty-seven cases of inverted duplications of chromosome 15 (inv dup [15]) were investigated by FISH with two DNA probes specific for the Prader-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 significant association was found between the presence of this region and 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 phenotype.
Leana-Cox
J
J
Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore.
Jenkins
L
L
Palmer
C G
CG
Plattner
R
R
Sheppard
L
L
Flejter
W L
WL
Zackowski
J
J
Tsien
F
F
Schwartz
S
S
D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis