Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype.
- Author(s): Marinescu, Ponnila S;
- Saller, Devereux N;
- Parks, W Tony;
- Yatsenko, Svetlana A;
- Rajkovic, Aleksandar
- et al.
Published Web Locationhttps://doi.org/10.1002/ccr3.162
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype-phenotype correlation between individual microarray and clinical findings adds to the emerging atlas of chromosomal abnormalities associated with specific prenatal ultrasound abnormalities.