Fetal karyotyping had been performed in seven of these cases and showed euploid results. |
A chromosome number of four was confirmed by cytological karyotyping. |
Women's case notes were examined to identify indication for karyotyping, gestation at diagnosis, and outcome of pregnancy. |
Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. |
Karyotyping was performed as a part of workup for disorder of sexual differentiations in all reported cases. |
Karyotyping is superior at detecting low-level mosaicism, some ploidies, balanced but potentially pathogenic rearrangements, and de-novo heterozygous pathogenic mutations. |