Cri Du Chat Syndrome Research Paper
A genetic disorder is when an abnormality happens in one’s DNA. They can go from affecting a gene to deleting or adding chromosomes. There are approximately 1,100 genetic disorders. I’m going to talk about Chromosome 5p Deletion. Chromosome 5p deletion is a genetic disorder because it is missing a copy of genetic material. Chromosome 5p deletion is an abnormality that occurs when you’re missing a region of chromosome 5. A Chromosome is a long, continuous thread of DNA that consists of numerous genes and regulatory information. Chromosome 5p deletion is also known as Cri du Chat syndrome. That is French for cat’s cry, with is the sound made by the abnormal development of the larynx. People with this syndrome usually have unusual facial features.
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Some of these symptoms are very subtle of obvious. It also causes low birth weight, slow growth, language difficulty, and possibly a heart defect or behavioral problems. In about 80% of patients with this disorder, the defect comes from the father. This defect in the chromosome usually happens randomly and is not hereditary. There are ways to find out if a child has Cri du Chat syndrome. At birth if the infant has a catlike cry, chromosome 5p deletion is strongly suspected. At this point chromosome testing would be performed. FISH (fluorescence in-situ hybridization) detects very small deletions. So far there is no treatment, but for behavioral issues there is therapy (such as head banging).
Chromosome 5p is a genetic disorder because it is missing a copy of genetic material. It is missing a region of chromosome 5. You can tell if one has it by simply looking at their physical features. It is not a life-threatening syndrome. There is no treatment but some aspects of it can be helped with
Some of these symptoms are very subtle of obvious. It also causes low birth weight, slow growth, language difficulty, and possibly a heart defect or behavioral problems. In about 80% of patients with this disorder, the defect comes from the father. This defect in the chromosome usually happens randomly and is not hereditary. There are ways to find out if a child has Cri du Chat syndrome. At birth if the infant has a catlike cry, chromosome 5p deletion is strongly suspected. At this point chromosome testing would be performed. FISH (fluorescence in-situ hybridization) detects very small deletions. So far there is no treatment, but for behavioral issues there is therapy (such as head banging).
Chromosome 5p is a genetic disorder because it is missing a copy of genetic material. It is missing a region of chromosome 5. You can tell if one has it by simply looking at their physical features. It is not a life-threatening syndrome. There is no treatment but some aspects of it can be helped with