Congenital disorders

Question 1

Symptoms associated with Fragile X syndrome?

Answer 1

Large ears, elongated face, large testes, low IQ

Think long face large testes

Question 2

Genetic abnormality in Fragile x syndrome?

Answer 2

Mutated FMR1 gene on X chromosome

Question 3

Genetic abnormality associated with Downs syndrome?

Answer 3

Trisomy 21

Question 4

Symptoms associated with Williams syndrome?

Answer 4

elfin facial appearance

Question 5

Genetic abnormality associated with William syndrome?

Answer 5

Deleted gene from chromosome 7

Question 6

Symptoms associated with Edwards syndrome?

Answer 6

Rocker bottom feet (club foot)

Microcephaly, low set ears, micrognathia, celft lip/palate

Question 7

Genetic abnormality associated with Edwards syndrome?

Answer 7

Trisomy 18

Think Edward, Eighteen

Question 8

Symptoms associated with Patau Syndrome?

Answer 8

Congenital heart defect, holoprosencephaly (brain doesn’t divide into two halves) celft palate

Many babies stillborn or sponeousluy abort

Question 9

Genetic abnormality associated with Patau Syndrome?

Answer 9

Trisomy 13