Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
Details
Serval ID
serval:BIB_593FB3EA0F57
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
Journal
American Journal of Medical Genetics
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Publication state
Published
Issued date
2001
Volume
99
Number
3
Pages
223-233
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
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).
Keywords
Adolescent, Adult, Animals, Child, Child, Preschool, Chromosome Aberrations, Chromosome Banding, Female, Fetal Diseases/genetics, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Microsatellite Repeats, Polymerase Chain Reaction, Pregnancy, Ring Chromosomes
Pubmed
Web of science
Create date
17/09/2011 11:09
Last modification date
20/08/2019 15:12
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