Prenatal diagnosis and molecular cytogenetic characterization of two hereditary chromosomal duplications with favorable outcomes

Abstract

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.

Keywords

• conventional karyotyping
• chromosomal microarray
• microduplication
• prenatal diagnosis
• copy number variation (cnv)