Identification of two de novo partial trisomies by comparative genomic hybridization.
We report the use of comparative genomic hybridization (CGH) to define the extra chromosome region present in two de novo partial trisomies 15q25-qter and Xp21-pter, which could not be clarified by conventional G-banding. Investigation with fluorescence in situ hybridization (FISH) revealed that the partial trisomy corresponded to an unbalanced translocation between Y and 15 chromosomes in 1 patient and an unbalanced X/X reorganization in the other patient. The combination of classical karyotyping, CGH, and FISH is useful for the identification and characterization of partial trisomies in clinical diagnostic laboratories, in order to delineate the chromosome regions implicated in specific clinical disorders.
Rigola
M A
MA
Unitat de Biologia, Departament de Biologia Cellular, Fisiologia i d'Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Centro de Patología Celular y Diagnóstico Prenatal, Barcelona, Spain.
Carrera
M
M
Ribas
I
I
De La Iglesia
C
C
Mendez
B
B
Egozcue
J
J
Fuster
C
C
D002648:Child; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000097:blood; D005146:Facial Asymmetry; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
D004247:DNA