FISH analysis in detecting 9p duplication (p22p24).
Authors report on a case of partial 9p duplication, involving the 9p22-9p24 region. This represents the second case of such duplication in which the breakpoints were precisely defined using fluorescence in situ hybridisation (FISH) with chromosome 9 specific painting and YAC DNA probes, localised onto 9p22-9p24 region. FISH analysis pinpointed chromosome breakpoints in dup(9)(p22p24) and excluded an insertion or a translocation from other chromosomes. The present report supports the segment 9p22-9p24 as the critical region for the observed phenotype of the duplication 9p syndrome.
Guanciali Franchi
P
P
Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università "G. D'Annunzio," Chieti, Italy.
Calabrese
G
G
Morizio
E
E
Modestini
E
E
Stuppia
L
L
Mingarelli
R
R
Palka
G
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002899:Chromosomes, Human, Pair 9; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male