It was first described by jérôme lejeune in 1963.
Cri du chat syndrom. Characteristics of this disorder are intellectual disability, delayed development, small head, low birth weight, weak. Cri du chat syndrome is a rare genetic disorder caused by missing pieces on a particular chromosome. Deletion refers to the loss of a chromosomal segment from any of the chromosomes.
Individuals with this syndrome have unusual facial features, poor muscle tone (hypotonia), small head size. The clinical picture, severity, and progression of the disease vary depending on the region of the chromosome. Its clinical and cytogenetic aspects were first described by lejeune et al.
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. Most deficiencies are harmful and injurious to organisms. The exact sex ratio is not known although reports indicate that females outnumber males by 2 to 1.
It is not the result of anything the parents have done or failed to do. The clinical picture, severity, and progression of the disease vary depending on the region of the chromosome deleted and. Cri du chat syndrome is a hereditary chromosomal condition that results when a piece of chromosome 5 is missing.
Cri du chat syndrome is a genetic disorder caused by a deletion of the short arm of chromosome 5. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more. Cri du chat research foundation.
Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. 85 rows cri du chat syndrome is due to a missing piece (deletion) of a specific part of chromosome 5 known as the 'p' arm.