Molecular karyotyping in human constitutional cytogenetics.
Using array CGH it is possible to detect very small genetic imbalances anywhere in the genome. Its usefulness has been well documented in cancer and more recently in constitutional disorders. In particular it has been used to detect interstitial and subtelomeric submicroscopic imbalances, to characterize their size at the molecular level and to define the breakpoints of chromosomal translocation. Here, we review the various applications of array CGH in constitutional cytogenetics. This technology remains expensive and the existence of numerous sequence polymorphisms makes its interpretation difficult. The challenge today is to transfer this technology in the clinical setting.
Sanlaville
Damien
D
Service de cytogénétique, laboratoire de cytogénétique, hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France. damien.sanlaville@nck.ap-hop-paris.fr
Lapierre
Jean-Michel
JM
Turleau
Catherine
C
Coquin
Aurélie
A
Borck
Guntram
G
Colleaux
Laurence
L
Vekemans
Michel
M
Romana
Serge Pierrick
SP
D002877:Chromosomes, Human / Q000235:genetics*; D004247:DNA / Q000032:analysis; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D009693:Nucleic Acid Hybridization / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*
D004247:DNA