Neonatal Cri du chat syndrome with atypical facial appearance: A case report

Figure 1 Karyotype analysis of peripheral blood cells. A total of 20 metaphase phase cells were detected, and the results showed a deletion of chromosome 5 (orange arrow), namely 46, XY, del(5)(P15), which was a partial monosomic 5P syndrome (Cri du chat syndrome).

Figure 2 Analysis of 24 human chromosomes by whole genome microarray in peripheral blood. Autosomes 1-22 and sex chromosomes X and Y were detected. The results of chromosomal abnormalities showed deletion of chromosome 5 (orange), amplification of chromosome 5 (blue)，and heterozygous deletion of chromosome 23 (purple).