Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.
We report on a patient presenting with mental retardation and obesity and a proximal duplication of chromosome 15. The patient shared some clinical signs with Prader-Willi syndrome. With a region-specific paint, generated by microdissection, a duplication in region 15q11.2-q13 was shown to be present. Subsequently, FISH with probes localized to chromosome region 15q11.2-q12 and microsatellite analysis was used to characterize this chromosome aberration further and an insertion duplication within the region frequently deleted in Prader-Willi and Angelman syndrome was demonstrated.
Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands.
J J
JJ
Engelen
W J
WJ
Loots
J C
JC
Albrechts
C T
CT
Schrander-Stumpel
R
R
Dirckx
H J
HJ
Smeets
A J
AJ
Hamers
J P
JP
Geraedts
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D019175:DNA Methylation; D015342:DNA Probes / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D017353:Gene Deletion; D020440:Gene Duplication; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000235:genetics*
D015342:DNA Probes; D005819:Genetic Markers