Interpretation of a Normal Karyotype and Recognition of Trisomy 21
Genetic Basis and Pathophysiology of Trisomy 21 (Down Syndrome)
An overview of normal karyotype interpretation and the genetic basis of Trisomy 21, commonly known as Down syndrome.
6/6/2025• 4 min read• 65 views
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Interpretation of a Normal Karyotype and Recognition of Trisomy 21
Understanding Karyotypes
A karyotype is a visual representation of an individual's chromosomes, which are typically arranged in pairs. A normal human karyotype consists of 46 chromosomes, organized into 23 pairs.
Trisomy 21: Genetic Basis
Trisomy 21, also known as Down syndrome, occurs due to the presence of an extra copy of chromosome 21. This results in a total of 47 chromosomes instead of the usual 46.
Pathophysiology of Down Syndrome
The additional genetic material influences various physiological processes, leading to characteristic features such as hypotonia, cognitive impairment, and congenital heart defects.
Tags
#karyotype analysis#Trisomy 21#Down syndrome#genetic disorders
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