Distal trisomy of 10q. Report of a new case of duplication 10q25.2-25.3-->qter defined by FISH.
In the present work, we report on a 2.5-year-old male patient with typical clinical features of partial trisomy of the distal third of chromosome 10 long arm. The karyotype was: 46,XY, dir dup(10)(q25.2-25.3-->qter). The identification of the duplicated segment was carried out by the fluorescence in situ hybridization technique using region-specific probes. The proband's phenotype is compared with previously reported cases.
Migliori
Maria Valeria
MV
Laboratorio di Citogenetica, Az. Osp. G. Salesi, Ancona, Italy. salgenan@infinito.it
Ciaschini
Anna Maria
AM
Discepoli
Giancarlo
G
Abbasciano
Vincenzo
V
Barbato
Maria
M
Pannone
Emilio
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D014314:Trisomy