Genetics

Question 1

Cri du chat

Answer 1

• Characteristic cry due to larynx and neurological problems
• small head and jaw, poor feeding and weight loss

Question 2

prader willi

Answer 2

• Hypotonia, hypogonadism, obesity

Question 3

Noonan

Answer 3

• Webbed neck, pectus excavatum, short stature, pulmonary stenosis

Question 4

Fragile X

Answer 4

• learning difficulties, macrocephaly, long face, long ears, macro orchidism

Question 5

Edward/T18

Answer 5

• Small jaw, low set ears, rocker bottom feet, overlapping fingers

Question 6

Patau/T13

Answer 6

• Microcephaly, small eyes, cleft lip, poly dactyl, scalp lesions

Question 7

Pierre-Robin syndrome

Answer 7

• Posterior displacement of tongue, cleft palate, small jaw

Question 8

Noonan syndrome vs Turners syndrome

Answer 8

Noonan
- Short, webbed neck, low set ears, pectus excavatum, both sexes affected

Turners
- Short, webbed neck, wide nipples, low set ears, infertility, females only