Although the symptoms of Cri du chat syndrome may vary among individuals, among the few that are common are a high-pitched cat-like cry, mental retardation, delayed development, small head (microcephaly) with unusual facial features, widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypertonia) in infancy.
B) Cri du chat The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy.
Introduction. Cri du Chat syndrome (CdC) (OMIM 123450, ORPHA281) is a rare disorder due to a deletion of part of the short arm of chromosome 5. The size of the deletion may vary from 5 to 40 MB. 1,2 Deletion occurs as a de novo event in 85% of patients. In the majority of cases it is of paternal origin while in the remaining cases one of the parents is a carrier of a balanced structural
Cri du Chat Syndrome, also known as cat's cry syndrome, 5p minus syndrome or LeJeune's syndrome, is a rare chromosomal disease (1-3). It is thought to occur in one in 15,000 to 50,000 births (4, 5) and is somewhat more common in females than in males, with roughly 60% of patients being female (reviewed in 1).
Cri du chat syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or " call of the cat ") referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963.