Congenital Genetic Conditions

Question 1

What are the features of Patau syndrome?

Answer 1

Microcephalic, small eyes, cleft lip and palate, polydactyly and scalp lesions

Question 2

What is the genetic cause of Patau’s syndrome?

Answer 2

Trisomy 13

Question 3

What are the features of Edward’s syndrome?

Answer 3

Micrognathia, low set ears, rocker-bottom feat and overlapping fingers

Question 4

What is the genetic cause of Edward’s syndrome?

Answer 4

Trisomy 18

Question 5

What are the features of Fragile X?

Answer 5

Learning difficulties, macrocephaly, long face, large ears and macro-orchidism

Question 6

What is the genetic cause of Fragile X?

Answer 6

This is a mutation of the FMR1 gene causing FMRP protein failure.

This is an X-linked dominant disorder

Question 7

What are the features of Noonan syndrome?

Answer 7

Webbed neck, pectus excavatum, short stature and pulmonary stenosis

Question 8

What is the genetic cause of Noonan syndrome?

Answer 8

Spontaneous mutation which is autosomal dominant

Question 9

What are the features of Prader-Willi syndrome?

Answer 9

Hypotonia, hypogonadism and obesity

Question 10

What are the genetic causes of Pierre-Robin syndrome?

Answer 10

This is caused by de-novo genetic changes

Question 11

What are the features of Cri-du-chat syndrome?

Answer 11

Characteristic cry, learning difficulties, poor feeding, microcephaly, micrognathism and hypertelorism

Question 12

What are the genetic causes of Prader-Willi syndrome?

Answer 12

Imprinting on chromosome 15

Question 13

What are the genetic causes of William’s syndrome?

Answer 13

Deletion on chromosome 7

Question 14

What are the features of Cri-du-chat syndrome?

Answer 14

Characteristic cry, learning difficulties, poor feeding, microcephaly, micrognathism and hypertelorism (increased distance between eyes)

Question 15

What are the genetic causes of Cri-du-chat syndrome?

Answer 15

Deletion on chromosome 5