Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.
Genet Couns
; 10(2): 123-32, 1999.
Article
in En
| MEDLINE
| ID: mdl-10422004
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prader-Willi Syndrome
/
Chromosomes, Human, Pair 15
/
In Situ Hybridization, Fluorescence
/
Gene Duplication
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
Genet Couns
Journal subject:
ETICA
/
GENETICA MEDICA
Year:
1999
Document type:
Article
Affiliation country:
Netherlands