Cri-Du-Chat Syndrome: Causes, Symptoms, and Diagnosis
Cri-Du-Chat syndrome, also known as chromosome 5p deletion syndrome, is a genetic disorder characterized by specific symptoms such as a cat-like cry, mental retardation, microcephaly, and more. Discovered in 1963 by Jerome Lejeune, this syndrome results from the deletion of chromosome 5. Genetic tests can help diagnose this condition by identifying physical signs and missing chromosomes. Learn about the effects, limitations, and diagnostic methods associated with this syndrome.
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Presentation Transcript
Cri-Du-Chat By: Jackson McMurray, Brielle Dunn, Nick Petruccelli, Owen Malone Brielle
Cri-du-chat (kree-doo-shah) Also known as chromosome 5p deletion syndrome, Lejeune's syndrome, and cat cry syndrome. The name was chosen because when a baby is born there cry resembles a cats cry and this is how they determine if the child has a disease. Who/when discovered? This disease was discovered by a geneticist named Jerome Lejeune, he discovered this disease in 1963. Where/how discovered? This disease was discovered in France. He discovered this disease when looking a chromosomes when he discovered a fragment caused by a random non heredity deletion of the short arm on chromosome 5. Brielle
Type of genetic disorder This is a disorder caused by the deletion of chromosome 5. which this results in some of there genes missing. An important gene that is deleted is TERT (telomerase reverse transcriptase) . This gene is so important because it keep the chromosome tips in tact. This disease is not inherited it is caused by the deletion of chromosome 5 in the mitosis. Brielle
Genetics graphic Nick
Symptoms Cat-like cry-Very high piched Mental retardation-Stupid Delayed development-Slow to grow Microcephaly-Small head size Hypertelorism-Widely spaced eyes Low birth weight-Below average Hypotonia-Weak muscle tone Jackson
Effects Mental retardation-Stupid Microcephaly-Small head size Hypertelorism-Widely spaced eyes Delayed development-slow to grow Jackson
Diagnosis Doctors can tell if a person has Cri-Du-Chat from the following easy signs: High pitched cry Low birth weight Small head size all the symptoms. Sometimes genetic tests can also reveal a missing Chromosome. The test used worldwide is the physical test because it can reveal almost Jackson
No Limits? Physical defects high-pitched cat-like cry scoliosis small head size (microcephaly) widely-spaced eyes low birth weight and weak muscle tone in infancy Developmental delays feeding difficulties delays in walking hyperactivity mental retardation The cat-like cry typically becomes less apparent with time. A small number of children are born with serious organ defects and other life-threatening medical conditions. Owen
Family Even though most people with this disorder have limitations they are friendly and happy, and enjoy social interaction. Most individuals with cri du chat syndrome have a normal life expectancy. Owen
Treatments For this disorder there is no cure. If they have any organ defects they will need surgery. They will need therapy in Speech and language Learning Coordination Movement Owen
NORD The national organization for rare diseases objective is to let people affected by this disorder know what cri-du-chat is and what the affects are raise awareness of the disease let people know that they aren t alone Owen
Cri-du-chat Story I am summarizing a story about James and his parents. His parents were devastated when he was first diagnosed with Cri-du- chat. But they learned to deal with the cards they were dealt and help James grow up to the best of his ability. They say when ever they feel sad they brush it off because they don t want James to think he caused them sadness or disappointment. They also say that other parents should not be worried because James brings them much joy and is definitely progressing. Nick
citations http://rarediseases.org/rare-diseases/cri-du-chat-syndrome/ Http://www.criduchat.asn.au/content/james Http://learn.genetics.utah.edu/content/disorders/chromosomal/cdc/ Dictionary,reference.com/browse/cri-du-chat https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
