Title
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
New York, N.Y. ,
Subject
Human medicine
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
Volume/pages
99(2001) :3 , p. 223-233
ISSN
0148-7299
ISI
000167463700010
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
Twelve patients with varying degrees of mosaicism for a supernumerary ring chromosome were studied. The ring chromosomes were characterized using microdissection in combination with degenerate nucleotide-primed polymerase chain reaction (PCR) and reverse painting (micro-FISH). This method made it possible to determine the chromosomal origin of the ring chromosomes in detail, and thus to compare the phenotypes of similar cases. Eleven of the marker chromosomes were derived from the most proximal part of 1p, 3p, 3q, 5p, 7q, 8p, 8q, 9p, 10p and 20p. One marker chromosome had a complex origin, including the proximal and the most distal part of 20q. Eight of the families were also investigated for uniparental disomy (UPD) using microsatellite analysis. One case with maternal UPD 9 was found in a child with a ring chromosome derived from chromosome 9, r(9)(p10p12).
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