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Prenatal diagnosis and molecular cytogenetic characterization of two hereditary chromosomal duplications with favorable outcomes
oleh: Y.J. Wu, C.J. Yu, W.H. Tian, Z. Xu
Format: | Article |
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Diterbitkan: | IMR Press 2020-10-01 |
Deskripsi
The objective of this study was to report two cases of hereditary chromosomal duplications with favorable outcomes. In both cases, conventional karyotyping showed a normal karyotype. However, chromosomal microarray analysis on uncultured amniocytes detected a 3.2 Mb duplication in the region of arr[hg19] 13q12.11q12.12(22,073,046-25,230,759)×3 in case 1 and a 3.1 Mb duplication in the region of arr[hg19] 6q12(65,423,142-68,550,465)×3 in case 2. In both cases, the chromosomal duplication was inherited from a mother who has no symptoms. Both cases resulted in phenotypically normal babies.