Genetics

Question 1

Genetics Turner Syndrome

Answer 1

45 XO

Question 2

Turner syndrome adult findings

Answer 2

-Web neck
-streaking of ovaries(replaced by fibrous tissue)
-short stature
-hypotonia
-

Question 3

Turner neonate or fetus findings

Answer 3

• lymphaedema of the hands and feet*
• cystic hygroma
• horseshoe kidney
• aortic coartication

Question 4

47 XXY

Answer 4

• Klinefelter Syndrome
• mild mental retardation
• tall male
• gynecomastia
• small testes
• infertility

Question 5

Trisomy 18- Edwards Syndrome

Answer 5

• prominent occiput
• micrognathia
• small mouth,
• low set- malformed ears
• rocker-bottom feet

Question 6

Trisomy 13-Patau Syndrome

Answer 6

• holoprosencephaly, microcephaly, rocker-bottom feet,

- facial abnormalities(cleft lip, microphthalmia, absent, malformed nose)