Interpretation of a Normal Karyotype and Identification of Trisomy 21
Chromosomal Structure and Number in a Normal Karyotype
A comprehensive overview of karyotyping, normal chromosomal structure, and the identification of Trisomy 21 (Down syndrome).
Interpretation of a Normal Karyotype and Identification of Trisomy 21
Understanding Chromosomal Structure and Number
The human genome consists of 23 pairs of chromosomes, making up a total of 46. Each chromosome carries genetic information crucial for development and function. A karyotype is a visual representation of chromosomes used to identify structural or numerical anomalies.
Normal Karyotype: What It Means
A normal karyotype consists of 22 pairs of autosomes and a pair of sex chromosomes (XX for females, XY for males). This confirms a standard chromosomal arrangement without abnormalities.
Trisomy 21: Identifying Down Syndrome
Trisomy 21, commonly known as Down syndrome, occurs when an individual has three copies of chromosome 21 instead of the usual two. This genetic condition can be identified through karyotyping.
- Physical traits include flattened facial features, upward-slanting eyes, and short stature.
- Common health concerns include congenital heart defects, developmental delays, and increased risk of leukemia.
Importance of Early Diagnosis
Karyotyping plays a vital role in diagnosing chromosomal conditions. Early identification helps in effective medical intervention and planning for individualized care.
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