[Diagnosis of chromosomal abnormalities by array CGH in constitutional pathology: the end of the first-line karyotype].

Abstract excerpt

Today, the array CGH has supplanted the karyotype for the global study of the genome with a resolution from 10 to 500 times better and with providing access to the genes content of the chromosomal rearrangement. The study of patients with intellectual disabilities and/or congenital malformations allowed to detect thanks to this technique 10 to 15% of abnormalities not visible on the karyotype. In addition, its...

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