Cri du Chat Syndrome (Cat’s Cry Syndrome, Monosomy 5p) by Sion (Gloria) Hur

What is Cri du Chat Syndrome? This syndrome is also known as Monosomy 5p or 5p- syndrome. It is a chromosomal syndrome that results when the end of the short arm (p) of chromosome 5 is deleted.

The Symptoms- cat’s cry This disorder is called “Cri du Chat” (meaning cat’s cry) because infants with this condition often have a high-pitched cry that sounds like that of a cat. (This is caused by the abnormal larynx development) Meooow

The Symptoms- Distinctive features The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy.

The Symptoms- Distinctive features Distinctive facial features include widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect, hearing or sight problems, or muscular or skeletal problems

Cause of the disorder Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-.

Cause of the disorder Cri du Chat syndrome is a chromosomal mutation caused by unequal recombination during meiosis while they are lined up at the metaphase plate. If the pairs of chromosomes don’t line up correctly or if the chromosome breaks aren’t repaired properly, the chromosomes can gain or lose pieces. Meiosis Metaphase Chromosome 5 Cri du Chat Syndrome missing

Is Cri du Chat Syndrome inherited? Most cases of Cri du Chat Syndrome are not inherited. The deletion occurs as a random event during the formation of reproductive cells or in early fetal development. About 10% of the cases are inherited, but it’s from an unaffected parent. But even if the child has this disorder, in most cases the parent doesn’t have it.

Is Cri du Chat Syndrome inherited? * Is it sex-linked? No, it is not sex-linked. *Is there a particular chromosome it is located on? It is located on Chromosome 5 *Is it recessive or dominant? Neither.

How is Cri du Chat syndrome treated? There is no real treatment for Cri du Chat syndrome. But children with this disorder can go through therapy and improve their intellectual skills to develop as much as possible.

How is Cri du Chat diagnosed? *The doctor could perform physical exams if the child has symptoms showing that they have the disorder. *Genetic tests can show a missing part of chromosome 5 *Parents of a child with this syndrome should have genetic counseling and testing to determine if one parent has a change in chromosome 5.

Other facts about Cri du Chat syndrome *Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. *There are support groups for children with this disorder ex.) 5P- Society -- www.fivepminus.org *The geneticist Jerome Lejeune identified Cri du Chat syndrome in 1963.

MLA Bibliography "Cri-du-Chat Syndrome." Learn.Genetics. University of Utah Health Sciences, n.d. Web. 07 June 2015. <http://learn.genetics.utah.edu/content/disorders/chromosomal/cdc/>. "Cri-du-chat Syndrome." Genetics Home Reference. US National Library of Medicine, 1 June 2015. Web. 07 June 2015. <http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome>. "Students......" Info for Students. N.p., n.d. Web. 07 June 2015. <http://yenial.tripod.com/students.html>. "Cri Du Chat Syndrome." Medline Plus Medical Encyclopedia. U.S. National Library of Medicine, 9 Aug. 2013. Web. 07 June 2015. <http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm>.