Pediatric Genetics Flashcards
3 categories of genetic disorders.
- mutant genes of large effect
- multifactorial inheritance
- chromosomal aberrations
- mitochondrial inheritance
Give examples of multifactorial inheritance.
– due to both genetic and environmental influences
e.g. hypertension, diabetes mellitus
What are chromosomal aberrations due to?
– 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
What is mitochondrial inheritance?
caused by mutations in the non-chromosomal DNA of mitochondria.
Give examples of mitochondrial disease.
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.
Another name for Mendelian inheritance?
monogenetic inheritance or single gene inheritance
Be able to name some AD disorders seen in pediatric patients.
achondroplasia
hypochondroplasia
Ehlers-Danlos syndrome
Marfan’s syndrome
Myotonic dystrophy
Osteogenesis imperfecta
Tuberous sclerosis
Waardenburg syndrome
What are the major signs and symptoms of Achondroplasia, Hypochondroplasia, Ehlers- Danlos syndrome and Marfan’s syndrome.
This pediatric disorder is AD pattern and is marked by hypotonia, weakness, and mental retardation.
myotonic dystrophy
This AD disorder seen in pediatric patients is marked by blue sclera, fracture easily, short stature.
osteogenesis imperfecta
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.
Tuberous sclerosis
This AD disorder is seen in pediatric patients and is marked by white forelock, dystopia canthorum, sensorineural deafness.
Waardenburg syndrome
Name some AR disorders seen in pediatric patients.
Signs and symptoms of the falling AR disorders.
What are some X-linked recessive disorders seen in pediatric patients.
What are the signs and symptoms of the following X-linked recessive disorders seen in pediatric patients?
Name some common disorder that are linked to ethnic geographic groups.
What are inborn errors of metabolism mostly due to?
defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).
What are inborn error of metabolism often referred to as?
congenital metabolic diseases or inherited metabolic diseases
Trisomy 13
Patau syndrome
Trisomy 21
Down syndrome
Trisomy 18
Edward syndrome
