A genetic disorder when a baby has an extra chromosome from parents.
Normally, human beings inherit 23 pairs of chromosomes from both parents for a total of 46.
Person with Down syndrome wind up with 47 chromosomes because they get an extra copy of chromosome 21.
This happens when the 21st pair of chromosomes from either the egg or sperm fail to separate.
Symptoms do vary.
It can’t be treated or prevented but it should be noted, they will be able to do everything a normal child can, but it takes the person longer to learn.
There are three types of Down’s syndrome:
Complete trisomy 21:
Most common chromosomal abnormality seen in children.
The extra chromosome comes from the mother 88 percent of the time and from the father 12 percent of the time.
Mosaic trisomy 21:
Rare form of Down syndrome.
Only some cells have an extra copy of chromosome 21.
Individuals with mosaic Down syndrome can have all the features of full trisomy 21, none of the features, or fall somewhere in between.
Translocation trisomy 21:
This occurs when two chromosomes, one of which is a number 21, join together at the ends, creating two independent number 21 chromosomes as well as a number 21 chromosome attached to another chromosome.
Approximately two thirds percent of translocations happen by chance.
The rest are inherited from a parent known as a “balanced carrier.” Although translocation Down syndrome occurs via a different mechanism than trisomy 21, the physical and features that mark the condition are the same.
verywellhealth
In translocation Down syndrome, the extra 21 chromosome may be attached to the 14 chromosome, or to other chromosome numbers like 13, 15, or 22. In some cases, two 21 chromosomes can be attached to each other.
Cause
Genetic disorder that occurs when a person has a full or partial extra copy of chromosome 21
Inherited from parents
If had a previous pregnancy where child has Downs Syndrome.
Late pregnancy over 35 years (increase as mother gets older) increases chance of Down’s syndrome
Source: www.dssri.org
Source: www.everymum.ie
Source: www.saut.org.sa
Source: genetics.thetech.org
Symptoms
Physical features:
Small head that’s somewhat flat in the back?
Eyes slant upwards (almond sharp-eyes)?
Skin folds on upper eyelid and corner of eye?
Small ears?
Small mouth?
White spots on colour part of eye (brushfield spots)?
Flattened Nose Bridge (missing nose bone)?
Large tongue that may protrude from the mouth?
Short neck?
Loose skin back of neck?
Short fingers?
Broad hands with single crease across palm?
Loose joints?
Shorter-than-normal thigh bone?
Floppy muscles?
Small feet with a larger than normal space between the big and second toes?
Mental features:
Slowness in learning to read or talk, performing activities?
Complications /Information to beware of/General tips:
Overexpression of the APP gene might be related to the overproduction of the significant protein observed in the senile plaque, the Abeta (1-42) peptide, which is considered to be one of the critical factors leading to the development of the pathology of Down syndrome with Alzheimer disease.
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Down’s Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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