1. By: Reagan O’Reilly and Isaiah Barnes
Cri-du-chat
By: Reagan O’Reilly and Isaiah Barnes

2. What is Cri-du-chat?
Cri-du-chat also know as 5p- is a very rare genetic disorder that is due to chromosomes being deleted
It affects about 1 in 20, ,000 births across the world
It is more common in females by about a 4:3 ratio

3. Information
Cri-du-chat got its name from the cry of babies who were affected by it, it sounded like a kitten meowing due to problems with vocal cords. About 1/3 of the babies lost their cry by the age of 2
Some symptoms include: low weight, a small head, wide eyes, speech disorders, different facial features

4. Genetic Changes
Cri-du-chat is caused by the short end arm of chromosome 5 (the pair inherited by both parents) being deleted
Chromosome 5 holds about 181 million DNA pairs, about 6% of the DNA in cells
How much is deleted varies among each person
Larger deletions result in more intellectual disabilities than smaller deletions

5. Treatment
Right now there is no specific treatment for cri-du-chat, at birth it can be diagnosed by analyzing DNA
The cat like cry is a key feature for the diagnosis of the syndrome
Kids with this syndrome will usually need lots of support from parents, doctors, and educations professionals to make sure they get a proper education and live normal lives

6. Is cri-du-chat inherited?
No, it is not inherited at all
The chromosome deletion usually occurs at a random time during the sperm or egg creation or at early fetus development.
About 10% of people with cri-du-chat inherit the chromosome with the deleted segment from an unaffected parent. In this case the parent has a chromosomal rearrangement called balanced translocation where no genetic material is gained or lost. They usually do not cause medical problems but they can become unbalanced and be passed on to the next generation, in which the small strand is deleted.

7. Genotype/Phenotype
A study for genotype/phenotype correlation was carried out on 80 patients
The results confirmed that the deletion was key for the symptoms of cri-du-chat but the size of deletion varied among patients, 62 of the patients suffered terminal deletion while some had severe and others only partial deletion.
The differences between them was severe

8. Works cited URL https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1574300/
Website Title National Human Genome Research Institute (NHGRI)
Article Title Learning About Cri du Chat
Date Accessed May 04, 2018
URL
Website Title U.S. National Library of Medicine
Article Title Chromosome 5 - Genetics Home Reference
URL
Article Title Cri-du-chat syndrome - Genetics Home Reference
URL
Website Title Wikipedia
Article Title Cri du chat syndrome
Date Published May 03, 2018
URL
Website Title Advances in pediatrics.
Publication Year 2006
Date Accessed May 04, 2018