[Spectral karyotyping (SKY) principle, avantages and limitations].
Banding karyotype is a routine technique, which allows the identification of numerous aneusomy and/or aneuploïdy in congenital diseases and cancers. However, this analysis fails to detect small or complex chromosome rearrangements. Molecular cytogenetic techniques like fluorescence in situ hybridization (FISH) analysis can overlap these limitations. Particularly, multicolor karyotyping by spectral karyotyping (SKY) may rectify or precise the conventional karyotype results. With two examples, we present here, the principle, the indications and the limits of this technique for constitutional and cancer chromosomal abnormalities characterization. Moreover, we present an easy way to build efficient sky probes with a best sensitivity than the probes classically used.
Belaud-Rotureau
M A
MA
Service d'histologie, embryologie et cytogénétique, Hôpital Necker enfants malades, Paris.
Elghezal
H
H
Bernardin
C
C
Sanlaville
D
D
Radford-Weiss
I
I
Raoul
O
O
Vekemans
M
M
Romana
S P
SP
D000328:Adult; D000367:Age Factors; D001483:Base Sequence; D002648:Child; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012106:Research; D012680:Sensitivity and Specificity; D032681:Spectral Karyotyping; D014314:Trisomy
D005819:Genetic Markers; D004247:DNA
Le caryotype spectral (SKY): principe, avantages et limites en cytogénétique constitutionnelle et tumorale.