Essay On Cri Du Chat Syndrome

Cri du chat syndrome, also referred to as cat cry syndrome and 5p deletion, is a chromosomal disorder resulting from the deletion of the short arm, known as the p arm on chromosome 5 (1). This disease was first described in 1963 by a French geneticist, Jerome Lejeune as a hereditary congenital syndrome (1). Today, it is known as one of most frequent autosomal deletion syndromes that results from loss of the distal portion of chromosome 5 affecting the telomerase reverse transcriptase (TERT) gene (6). The deletion occurs at random during meiosis or early fetal development and varies in level of severity dependent upon the size of the deletion on the p arm. The deletion causes a structural abnormality that influences multiple genes on chromosome 5, but not all genes have been identified. The chromosomal band breakpoints occur between 5p15.2-5p15.3 (3). Although, there is evidence that the size of the deletion ranges from the entire short arm to the region 5p15 with size ranging from 5 to 40 Mb (5). The chromosome mutation can occur as a terminal or interstitial …show more content…
Preventive measures include genetic counseling to determine carrier status of translocation or structural abnormality of the parent's chromosome 5 (5). This is obtained by cytogenic testing which is performed to analyze chromosomal structure, if translocation is present then the patient is considered a carrier. Prenatal testing is available for those suspected of carrying the translocated chromosome by performing an amniocentesis or chronic villus sampling (8). An amniocentesis can be done between weeks 15-20 of pregnancy, cells collected from the amniotic fluid can be analyzed for chromosomal abnormalities. Similar evaluation of chromosome structure can be done using a tissue sample obtained from the placenta during weeks 10-13 of pregnancy, referred to as chronic villus sampling. Individual's diagnosed with this genetic disease….prognosis