Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect
Small supernumerary marker chromosome (sSMC) is a rare chromosomal abnormality and is detected in about 0.3% in cases with multiple congenital anomalies (MCA) and/or developmental delay. Different techniques for investigation of cases with MCA and/or developmental delay are available ranging from ka...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2018-10-01
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| Series: | Romanian Journal of Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/rrlm-2018-0032 |