Here are the essential concepts you must grasp in order to answer the question correctly.
Cri-du-chat Syndrome
Cri-du-chat syndrome is a genetic disorder caused by a deletion of a portion of chromosome 5, specifically at the 5p15.2 region. This condition is characterized by distinctive features such as a high-pitched cry resembling that of a cat, developmental delays, and various physical anomalies. Understanding the genetic basis of this syndrome is crucial for analyzing the karyotype results and determining if the child's chromosomes align with the expected genetic profile.
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Robertsonian Translocations
Karyotype Analysis
Karyotype analysis is a laboratory technique used to visualize an individual's chromosomes, allowing for the assessment of chromosomal number and structure. This analysis can identify chromosomal abnormalities, such as deletions, duplications, or translocations, which are critical in diagnosing genetic disorders. In the context of cri-du-chat syndrome, examining the karyotype of the child will help confirm the presence of the specific deletion on chromosome 5.
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Chromosomal Deletion
A chromosomal deletion refers to the loss of a segment of DNA from a chromosome, which can lead to genetic disorders if critical genes are missing. In cri-du-chat syndrome, the deletion occurs at the terminal end of chromosome 5, resulting in the loss of important genetic material. Understanding the implications of such deletions is essential for interpreting karyotype results and assessing the genetic health of the child.
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