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Ch. 10 - Eukaryotic Chromosome Abnormalities and Molecular Organization
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172당신이 사용하는 게 아니라요?교과서 변경
10장, 문제 32d

A healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. Diagram the pairing of the abnormal chromosomes.

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Step 1: Understand the genetic basis of cri-du-chat syndrome. This disorder is caused by a terminal deletion on the short arm of chromosome 5 (5p). The deletion results in the loss of genetic material, leading to the characteristic symptoms of the syndrome.
Step 2: Review the karyotype analysis results for the parents and the child. Focus on identifying any structural abnormalities in chromosomes 5 and 12, such as deletions, translocations, or other rearrangements.
Step 3: Diagram the pairing of the abnormal chromosomes during meiosis. To do this, illustrate how the deleted chromosome 5 from the child aligns with the normal chromosome 5 from the parent. Use a visual representation to show the missing segment on chromosome 5p.
Step 4: Consider the possibility of a balanced translocation in one of the parents. If one parent has a balanced translocation involving chromosomes 5 and 12, this could explain the inheritance pattern and the occurrence of cri-du-chat syndrome in the child. Diagram how the translocated chromosome pairs with its homologous chromosome during meiosis.
Step 5: Label the diagram clearly to indicate the normal and abnormal chromosomes, the deleted region on chromosome 5, and any translocations involving chromosome 12. This will help visualize the genetic mechanism leading to the disorder.

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주요 개념

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Karyotype Analysis

Karyotype analysis is a laboratory technique that involves the examination of an individual's chromosomes to identify genetic abnormalities. It provides a visual representation of the number and structure of chromosomes, allowing for the detection of deletions, duplications, or other chromosomal rearrangements. In this case, it is crucial for understanding the chromosomal basis of cri-du-chat syndrome and assessing the genetic status of the parents.
추천 영상:
가이드 코스
02:48
Chi Square Analysis

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 this syndrome is essential for interpreting the karyotype results and the implications for the family.
추천 영상:
가이드 코스
09:31
Robertsonian Translocations

Chromosomal Deletion

A chromosomal deletion occurs when a segment of a chromosome is missing or deleted, which can lead to genetic disorders due to the loss of essential genes. In cri-du-chat syndrome, the deletion affects critical genes on chromosome 5, resulting in the symptoms associated with the disorder. Recognizing the nature of chromosomal deletions is vital for understanding the genetic risks and potential outcomes for the couple's future pregnancies.
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교과서 질문

A healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. Are the chromosomes in the child consistent with those expected in a case of cri-du-chat syndrome? Explain your reasoning.

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교과서 질문

A healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. Do the karyotypes of the parents help explain the occurrence of the three previous spontaneous abortions? Explain.

410
views
교과서 질문

A healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. What is the approximate probability that the next child of this couple will have cri-du-chat syndrome?

376
views
교과서 질문

A healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. Which parent has an abnormal karyotype? How can you tell? What is the nature of the abnormality?

407
views
교과서 질문

A healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. Why does this parent have a normal phenotype?

372
views
교과서 질문

A healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. What segregation pattern occurred to produce the gamete involved in fertilization of the child with cri-du-chat syndrome?

381
views