Cri du Chat Ilana Horton

Introduction Cri du chat syndrome, also known as chromosome 5p deletion syndrome, Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births, strikes all ethnicities, and is more common in females by a 4:3 ratio.

Symptoms of Cri du Chat Symptoms of Crli du Chat include a sound that often sounds like a cat like cry in infancy, growth failure, microcephaly, facial abnormalities, and mental retardation below.

Genetic Information The chromosome 5 is the chromosome that has been partially deleted that causes this mutation and this syndrome. The size of deletion could affect from the region 5p15.3 to the total deletion of the second arm on chromosome 5. 80% of the cases are due to a de novo deletion ( ), 10% are originated from a parental translocation, and less than 10% are associated with cytogenetic rare aberrations. Depending on where the partial chromosome 5 has been deleted, it can affect the 5p15.3 or the 5p15.2 The 5p15.3 results in the crying sound that sounds similar to a catlike cry, while a deletion of the 15p.2 results in the other features that are used to describe the syndrome. This trait is autosomal deletion, and is neither dominant or recessive, because they receive that deleted segment from chromosome 5 from an unaffected parent, and is not inherited. They typically have no history of the condition in the family, and is polygenetic because multiple genes from chromosome 5 are deleted.

Frequency & Survival Estimated 1 in 50,000 children a year are born with Cri Du Chat syndrome. Mental retardation occurs 1.5 in 1000. The death rate of Cri du Chat syndrome is 6-8% in the overall population, but with certain treatments, survival to adulthood is not likely, but is possible. Causes of death include pneumonia, aspiration pneumonia, heart defects, and respiratory distress syndrome.

Race, Sex, and Treatments There is no race that is more dominant in another for Cri du Chat syndrome, but females are more dominant over males in newborns, with the ratio being .072:1. Although there is no exact cure for Cri du Chat, there are treatments to help stimulate the child and allow them to get to their full potential. Physiotherapy to improve poor muscle tone, speech therapy, teaching those children sign language since speech is either non existent or delayed, occupational therapy to teach coping strategies

Citations https://login.medscape.com/login/sso/getlogin?urlCache=aHR0cDovL2Vt ZWRpY2luZS5tZWRzY2FwZS5jb20vcmVmYXJ0aWNsZS85NDI4OTctY2xpbmljY Ww/c3JjPXJlZmdhdGVzcmMx&ac=401 http://emedicine.medscape.com/article/942897-treatment http://ji-criduchat.blogspot.com/2009/02/manner-of- inheritance.html?_sm_au_=iVVDsRQrWDSjRV5P