Article: article d'un périodique ou d'un magazine.
Etude de cas (case report): rapporte une observation et la commente brièvement.
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
American Journal of Medical Genetics
Date de publication
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
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).
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
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