The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Clinical characteristics of patients are not always related to specific syndromes. Array-comparative genomic hybridization (aCGH) is used to detect submicroscopic copy number variants within the genome not visible by conventional karyotyping. The clinical application of aCGH has helped the genetic diagnosis of patients with unexplained developmental delay/intellectual disability, autism spectrum disorders, with or without multiple congenital anomalies. Since 2008, we have implemented aCGH with the 244K and 4 × 180K Agilent platform on 334 patients with various degrees of developmental delay/intellectual disability, seizures, autism spectrum disorders, multiple congenital anomalies and normal previous conventional karyotype. Many of the patients had also received a variety of other genetic tests (Fragile X syndrome, Rett syndrome, single FISH tests or metabolic screens), which were normal. Clinically significant submicroscopic imbalances with aCGH were detected in 84 (∼25.15%) patients. aCGH is proving to be a powerful tool for the identification of novel chromosomal syndromes, thus allowing accurate prognosis and phenotype-genotype correlations.
Department of Medical Genetics, Aghia Sophia Childrens Hospital, Thivon & Levadias, Medical School, University of Athens, 11527, Athens, Greece. mtzetis@med.uoa.gr
Maria
M
Tzetis
Sofia
S
Kitsiou-Tzeli
Helen
H
Frysira
Athena
A
Xaidara
Emmanuel
E
Kanavakis
D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D025202:Molecular Diagnostic Techniques