Pediatric Genetics

Question 1

3 categories of genetic disorders.

Answer 1

1. mutant genes of large effect
2. multifactorial inheritance
3. chromosomal aberrations
4. mitochondrial inheritance

Question 2

Give examples of multifactorial inheritance.

Answer 2

– due to both genetic and environmental influences
e.g. hypertension, diabetes mellitus

Question 3

What are chromosomal aberrations due to?

Answer 3

– due to numeric or structural aberrations. e.g. Down’s syndrome, Turner’s syndrome

Single gene disorders with nonclassic inheritance
- Due to mutations in mitochondrial DNA, genomic imprinting, or due to triplet repeat mutations. e.g. Angelman syndrome

Question 4

What is mitochondrial inheritance?

Answer 4

caused by mutations in the non-chromosomal DNA of mitochondria.

Question 5

Give examples of mitochondrial disease.

Answer 5

an eye disease called Leber’s hereditary optic atrophy; a type of epilepsy called MERRF which stands for myoclonus epilepsy with Ragged Red Fibers; and a form of dementia called MELAS for mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.

Question 6

Another name for Mendelian inheritance?

Answer 6

monogenetic inheritance or single gene inheritance

Question 7

Be able to name some AD disorders seen in pediatric patients.

Answer 7

achondroplasia
hypochondroplasia
Ehlers-Danlos syndrome
Marfan’s syndrome
Myotonic dystrophy
Osteogenesis imperfecta
Tuberous sclerosis
Waardenburg syndrome

Question 8

What are the major signs and symptoms of Achondroplasia, Hypochondroplasia, Ehlers- Danlos syndrome and Marfan’s syndrome.

Answer 8

Question 9

This pediatric disorder is AD pattern and is marked by hypotonia, weakness, and mental retardation.

Answer 9

myotonic dystrophy

Question 10

This AD disorder seen in pediatric patients is marked by blue sclera, fracture easily, short stature.

Answer 10

osteogenesis imperfecta

Question 11

This AD disorder is seen in pediatric patients and is marked by infantile spasms, mental retardation, depigmented areas of skin, adenoma sebaceum over nose and cheeks.

Answer 11

Tuberous sclerosis

Question 12

This AD disorder is seen in pediatric patients and is marked by white forelock, dystopia canthorum, sensorineural deafness.

Answer 12

Waardenburg syndrome

Question 13

Name some AR disorders seen in pediatric patients.

Answer 13

Question 14

Signs and symptoms of the falling AR disorders.

Answer 14

Question 15

What are some X-linked recessive disorders seen in pediatric patients.

Answer 15

Question 16

What are the signs and symptoms of the following X-linked recessive disorders seen in pediatric patients?

Answer 16

Question 17

Name some common disorder that are linked to ethnic geographic groups.

Answer 17

Question 18

What are inborn errors of metabolism mostly due to?

Answer 18

defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

Question 19

What are inborn error of metabolism often referred to as?

Answer 19

congenital metabolic diseases or inherited metabolic diseases

Question 20

Trisomy 13

Answer 20

Patau syndrome

Question 21

Trisomy 21

Answer 21

Down syndrome

Question 22

Trisomy 18

Answer 22

Edward syndrome