Which chromosome is responsible for cat cry syndrome? - briefly
Cat cry syndrome, also known as Cri-du-chat syndrome, is caused by a deletion on the short arm of chromosome 5. This genetic alteration leads to the characteristic features of the disorder.
Which chromosome is responsible for cat cry syndrome? - in detail
Cat cry syndrome, also known as Cri-du-chat syndrome, is a rare genetic disorder caused by a deletion on the short arm of chromosome 5. This deletion typically occurs in the region designated as 5p15.2, although the size of the deletion can vary among individuals. The syndrome derives its name from the characteristic high-pitched, cat-like cry observed in affected infants, which is due to abnormalities in the larynx and nervous system. The loss of genetic material in this region disrupts the normal development of various bodily systems, leading to the clinical features associated with the condition. These features include intellectual disability, delayed development, microcephaly, distinctive facial features, and low birth weight. The severity of symptoms often correlates with the size and location of the deletion on chromosome 5. Research has identified specific genes within the 5p15.2 region, such as CTNND2 and SEMAF, which are implicated in brain development and function. While the exact mechanisms by which these genes contribute to the syndrome are still being studied, their deletion is believed to be a primary factor in the neurological and physical manifestations of Cri-du-chat syndrome. Genetic testing, including karyotyping and fluorescence in situ hybridization (FISH), is used to confirm the diagnosis by detecting the chromosomal abnormality. Understanding the role of chromosome 5 in this syndrome provides valuable insights into its genetic basis and aids in the development of targeted interventions and support for affected individuals.