Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis
Background and objective: Conventional cytogenetics diagnoses 3–5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 and 5.8%. Currently the c...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Elsevier
2018-07-01
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| Series: | Anales de Pediatría (English Edition) |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2341287918300875 |