Cri Du Chat Syndrome: A Case Study

Abstract

Cri du Chat syndrome (CdCS) is a chromosomal abnormality resulting from a deletion of variable size at the end of the short arm of chromosome 5 (5p), including a critical region located at p15.2. It is one of the most common chromosomal deletions, with an incidence in the general population of between 1:20,000 and 1:50,000. Clinical features include an acute monochromatic cry, microcephaly, characteristic craniofacial dysmorphia progressing with age and significant mental and psychomotor retardation. The size of the deletion varies, and treatment depends on the various symptoms. Parental chromosomal rearrangement is found in 12% of cases and the majority of deletions responsible for cri-du-chat disease occur de novo. We present an observation of a Cri du Chat syndrome, confirmed by metaphasic karyotype (46, XY,del(5)(p13) de novo). Through this observation we will update the scientific news of this rare syndrome, as well as the place of cytogenetic explorations in the precise diagnosis and genetic counselling of dysmorphic syndromes.