Genome Mutations

Question 1

<p>Down's Syndrome</p>

Answer 1

<p>Trisomy 21, 47, XY, +21. 1/700 live births, flat facial profile, mental retardation, cardiac problems, risk of acute leukemia, eventual neuropathological disorders, abnormal immune system </p>

Question 2

<p>Edward's Syndrome</p>

Answer 2

<p>Trisomy 18, 47, XY, +18. 1/3000 live births, Severe, clenched fist; survival less than 1 year</p>

Question 3

<p>Patau's Syndrome</p>

Answer 3

<p>Trisomy 13, 47, XY, +13, 1/5000 live births, cleft palate, heart damage, mental retardation, survival usually less than 6 mo.</p>

Question 4

<p>Klinefelter's Syndrome</p>

Answer 4

<p>47, XXY, male hypogonadism, long legs, gynecomastia (male breast enlargement), low testosterone level</p>

Question 5

<p>Turner's Syndrome</p>

Answer 5

<p>45, X and variants, bilateral neck webbing, heart disease, failure to develop secondary sex characteristics, hypothyroidism</p>