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Questions and Answers
What is the total number of chromosomes in the cells of individuals with Down syndrome caused by translocation?
What is the total number of chromosomes in the cells of individuals with Down syndrome caused by translocation?
In what percentage of Down syndrome cases does translocation occur?
In what percentage of Down syndrome cases does translocation occur?
Approximately how many Filipino households care for a family member with Down syndrome?
Approximately how many Filipino households care for a family member with Down syndrome?
Which chromosome does the extra full or partial copy of chromosome 21 usually attach to in translocation?
Which chromosome does the extra full or partial copy of chromosome 21 usually attach to in translocation?
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What is the frequency of Down syndrome in newborns in the Philippines?
What is the frequency of Down syndrome in newborns in the Philippines?
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Study Notes
Chromosomal Abnormalities
- Chromosomal abnormalities occur when a child inherits too many or too few chromosomes, resulting in a genetic condition due to a problem with one of the 23 pairs of chromosomes.
Causes of Chromosomal Abnormalities
- Age of the mother
- Genetic mutations
- Inherited abnormalities
- Environmental factors
Trisomy 21 (Down Syndrome)
- Also known as Down syndrome, it is one of the most common chromosomal abnormalities.
- Caused by abnormal cell division resulting in an extra full or partial copy of chromosome 21.
- Characterized by intellectual disability and physical features such as short fingers and toes, folds of skin over the eyes, and a protruding tongue.
Prevalence of Down Syndrome
- In Illinois, there is a prevalence of Down syndrome (refer to Table 2.2).
- In the Philippines, Down syndrome affects approximately one in every 800 newborns, with over 100,000 Filipino households caring for a family member with this condition.
Types of Down Syndrome
- Trisomy 21 (Nondisjunction): an error in cell division resulting in an embryo with three copies of chromosome 21 instead of the usual two.
- Mosaicism: a mixture of two types of cells, some containing 46 chromosomes and some containing 47, with an extra chromosome 21.
- Translocation: the total number of chromosomes remains 46, but an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14.
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Description
Learn about chromosomal abnormalities, their causes, and Trisomy 21, also known as Down syndrome, a genetic condition caused by abnormal cell division.
