Is Your Child’s Cry Unusual? Cri du Chat Syndrome
I have a friend named Jack.
He had a distinctive way of speaking that sounded like a kitten. His crying sound is similar to cat.
Jack also had unique physical features, such as wide-set eyes and a small chin, small head.
Learning new things was challenging for Jack, and it took him longer than other kids to sit up, crawl, and speak.
He also encountered health struggles, occasionally experiencing issues with his heart or stomach.
Jack’s doctors diagnosed him with Cri du Chat syndrome.
After returning home, Jack searched for information about this syndrome and documented what he learned in his diary.
I decided to share some excerpts from his diary with all of you because it’s genuinely interesting.
Cri du Chat S Y N D R O M E,
“cry of the cat” IN FRENCH — RARE GENETIC DISORDER
You know how our bodies are made up of lots of tiny things called cells, right?
Inside these cells, there’s a nucleus, and it contains things called chromosomes.
These chromosomes are like instruction manuals for our bodies, carrying our genes. Think of them as guides that tell our bodies how to grow and work properly.
There are total 23 pair of choromosomes in our body.
If you want to understand it more then first read this.
Well, sometimes, in one of these chromosomes, number 5 to be specific, a part of it can go missing or get messed up when a baby is forming inside their mom.
M I S S I N G??
A chromosome can go missing due to a genetic event called a deletion.
DELETION
Chromosomes are like instruction manuals made up of DNA, and they contain genes that provide the body with instructions for growth, development, and function.
During the formation of reproductive cells (eggs and sperm) or in the early stages of fetal development, mistakes can occur.
Sometimes, a part of a chromosome can get deleted or become lost. This deletion can happen randomly and is not typically related to anything the parents did or didn’t do.
C H R O M O S O M E 5
In the case of Cri du Chat syndrome, a deletion specifically occurs in the short arm (5p) of chromosome 5.
This loss or deletion of genetic material results in the features and health issues associated with this syndrome.
The centromere divides the chromosome into these two segments, with the short arm (p) being the smaller portion and the long arm (q) being the larger section.
The arms are essential for describing the location of specific genes or genetic markers on the chromosome.
Some of the crucial genes linked to Cri du Chat syndrome, found on the short arm of chromosome 5, include:
D I A G N O S I N G
Chromosome analysis, specifically a test called chromosomal microarray analysis (CMA) or cytogenetic testing, is commonly used to identify chromosomal abnormalities.
More advanced techniques like microarray-based comparative genomic hybridization (aCGH) or fluorescence in situ hybridization (FISH).
These tests can detect the deletion on the short arm (5p) of chromosome 5, confirming the presence of Cri du Chat syndrome.
There are certain prenatal screening tests available for detecting chromosomal abnormalities during pregnancy.
These tests, such as amniocentesis or chorionic villus sampling (CVS), can identify certain chromosomal conditions.
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Cri du Chat syndrome cannot be prevented, advancements in medical care and early interventions can significantly improve the quality of life.
Physical therapy, speech therapy, educational support, and specialized care helps manage the symptoms and enhance the developmental progress of affected individuals.
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If you like this you can read about other health disorders in my profile.
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Thank You all.
