When Cri du chat syndrome meets Edwards syndrome

Abstract

It has been well established that the 5p deletion causes Cri du chat syndrome, typically characterized by a cat‑like cry, and that duplication of 18q causes Edwards syndrome; the two are rare genetic abnormalities that separately lead to physical and mental impairments. However, the severity of the clinicopathological characteristics that arise when these two aberrations occur in one patient is unknown. Here, the first case in our knowledge of a single patient (a two‑year‑old female) with 5p partial monosomy and 18q partial trisomy is described. In the present study, chromosome microarray analysis was performed, which identified the imbalance of chromosomes 5 and 18 in the patient. The chromosome aberrations were further confirmed by fluorescence in situ hybridization. By comparing the phenotypes of combined case with those of the individual syndromes, severe clinical phenotypes of the 5p (5p15.33‑p13.3) deletion were confirmed, however, the net effect of the duplication of 18q22.3‑q23 was not determined, as this duplication only appeared to have a weak effect on the patient's phenotypes. The correlation between these chromosomal aberrations and their clinical features has implications for the identification of critical regions of 5p and 18q, particularly for the functional mapping of chromosome 18.