Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype
Abstract Background Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm. Case presentation A 28-year-old, gravi...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-11-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-022-00626-w |