Cri du Chat


1. Who first discovered this disorder:
Where, when and under what circumstances was it discovered:external image 5lNB7P60AFm8AHZ7K_S7Eu_Pbc55Vc4en6eVwkVEwttPbPzavBbrIbTkplt82Of7F_hSu9aN_7T2InZrHd5eJ3YhKTgPZA0r01W_acldDgzRJAtAKiJEjzaoGs0hc5GCsDKoqTg
  1. Jérôme Lejeune first discovered Cri du Chat Syndrome in 1963. Him and his collaborators discovered it when they saw a pattern in patients that has similar symptoms. The symptoms included having a high pitched cat like cry that is caused by the larynx. Thus where the name Cri du Chat came from. Cri du Chat translates to “cry of the cat” in French.
2. Symptoms/characteristics associated with this disorder:
At what age do the symptoms begin:
Are the symptoms treatable:
The inheritance pattern of the disrder:external image H4-MYBmlqDQQ7QE8oFr1qfhakMSdOnOlyOsMRe-FRRyTWPdYXs1gPB2KmT2TKSDf00mzSmRBA1tMHyQOQSyq2i-72Lg5_15MrD1H5IKFd5jlhuuGwHSmgEvurpXc5wuakKv1q70
2. The main symptom of this condition is a loud mewing cry but some other characteristics include:
  • Dislocation of hips
  • Weak muscles
  • Low birth weight
  • Slow growth
  • Round face with small chin
  • Wide set eyes
  • Folds on the inner corners of the eyes
  • Small head circumference
  • Cognitive delays-varies per individual
Some other symptoms that may occur are:
  • Fine motor delays
  • Gross motor delays
  • Speech and language delays
  • Problem behaviors
  • Hyperactivity
  • Short attention span
  • Communication and language development delays
  • Constipation issues
  • Malocclusions in the mouth
  • Drooling
  • Sleep difficulties
  • Feeding difficulties
  • Reflux
  • Scoliosis
  • Weak pulmonary system
  • Ailments of the Heart
  • Seizures

If you have Cri du Chat then you are born with it. But in most cases of it, it is not inherited. The deletion typically occurs randomly during the reproduction of the reproductive cells. It can also occur during early development. About 10% of people inherit it abnormally from a parent that is unaffected. This happens because a parent is carrying a chromosomal rearrangement called balanced translocation. This means no genetic material will be gained or lost. Balanced translocation normally does not cause any problems but sometimes when it is being passed on from generation to generation, it can turn unbalanced. Children who inherit unbalanced translocations can have chromosomal rearrangement of have missing chromosomes. There are also no real treatments besides therapy. It is normally fatal.
3. Environmental factors that can affect the symptoms:
3. There are not any environmental factors that could make this disease flare up even more than it would already.
4.How common is the disorder:
Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex:
4. Cri du chat is a rare disease. 1 in 20,000-50,000 newborns have it. It is also found in all ethnic backgrounds and all sex’s.
5. What tests are done to confirm a diagnosis of this disorder:
5. A doctor will diagnose it after finding out the symptoms, which make it clear that the child has the disease. This normally happens right after childbirth when the child shows symptoms.
6. Which chromosome(s) is responsible for this disorder:
Is it caused by a gene mutation:
Which gene is involved:
Is it caused by a chromosomal mutation:
Which type:
6. It is caused by the deletion of genetic material on the small arm of chromosome 5. The cause of this rare chromosomal deletion is unknown.
Fun Facts
  • Jérôme Lejeune also discovered Down Syndrome
  • The disease gets less noticeable as the baby gets older
  • It is thought that girls receive this disease more than boys
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Work Cited
__https://www.genome.gov/19517558/learning-about-cri-du-chat/__

__https://quizlet.com/283900774/cri-du-chat-syndrome-flash-cards/__

__https://www.thatquiz.org/tq/previewtest?E/5/Y/U/XYMU1491963334__

__https://www.fondationlejeune.org/en/rare-diseases/cri-du-chat-syndrome/__

__http://www.criduchat.org/index.php/about/__

__http://www.institutlejeune.org/comprendre/les-autres-syndromes.html__

__https://rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome__

__https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome__