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Karyotype Analysis Disorder Name Diploid Chromosome Make-Up None/Healthy Female 46, XX N/A None/Healthy Male 46, XY N/A Patau Syndrome 47, Trisomy-13 Edwards Syndrome 47, Trisomy-18 Down Syndrome 47, Trisomy-21 Klinefelters Syndrome 47, XXY Turners Syndrome 45, X Jacob’s Syndrome 47, XYY Cri-du-chat Syndrome 46, there is a partial deletion of an upper short arm on chromosome 5 46, there is a partial deletion on an upper short arm on chromosome 18 18q Syndrome Symptoms Fatal by one year (most die within days of birth). Severe Mental and Physical Disabilities. Includes: very small, poorly developed eyes, cleft lip and palate, extra fingers or toes, weak muscle tone. Slow growth while in the womb, suffers from low birth weight. Heart defects. Deformed skull, small jaw and mouth. Severe mental disabilities. Most infants die within the first month, only around 5% survive to their first birthday. Mild to severe mental disabilities. Increased risk of Alzheimers, heart defects, and digestive abnormalities. Physical characteristics include: flattened facial profile, upward slant of eyes, shortened neck, typically smaller in stature, poor muscle tone. Male with an extra X chromosome. Sterile because of underdeveloped testes due to lower testosterone. Reduced facial and body hair. Tend to be taller than peers. Tend to have learning disabilities, including delayed speech. Female with only one X chromosome. No mental disabilities. Most infertile due to early ovarian failure. Shorter in stature, webbed neck, swelling of hands and feet at infancy. 1/3 born with heart defect. Male with an extra Y chromosome. Taller than average. No unusual physical features. Are fertile, normal sexual development. Delayed development of motor skills (like walking). Weak muscle tone, hand tremors. Can experience behavioral and emotional issues. Feeble. High pitched cat-like cries, delayed development, mental disabilities. Distinct facial features include wide-set eyes, low-set ears, and small jaw Mild to severe range of mental disabilities, seizures, short stature, narrow ear canals leading to hearing loss, limb and foot deformities, deep set eyes, skin problems Patient C Patient D Name________________________ Questions 1. What is karyotyping used for? 2. What is the gender patient of C and how do you know? 3. Does Patient C have one of the disorders listed in the table? If so, list the disorder and how you knew. 4. Does Patient D have one of the disorders listed in the table? If so, list the disorder and how you knew. 5. What is the gender of patient D and how do you know? 6. What is the diploid number for a healthy human being? 7. Are the cells being examined for these karyotypes diploid or haploid? How do you know? 8. T/F The chromosomes shown below are homologous chromosomes. Explain your answer. 9. What occurs during meiosis that causes abnormal numbers of chromosomes?