Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case.
A new case of a de novo trisomy 10cen-->10pter is described. The karyotype was exactly defined by high resolution banding and FISH analysis; the chromosome aberration was of maternal meiotic origin as demonstrated by RFLP analysis. Clinical data are reported and correlated with other trisomy 10p cases from the literature. A critical review of the literature was made to define the phenotype of trisomy 10p syndrome.
Granata
P
P
Laboratorio di Citogenetica e Genetica, Ospedale di Circolo e Università dell'Insubria, Viale Borri 57, 21100, Varese, Italy.
Mazzola
D
D
Righi
R
R
Minelli
E
E
Salvatoni
A
A
Baroli
P
P
Maggi
F
F
Casalone
R
R
D000293:Adolescent; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D014314:Trisomy