Paeds genetics Flashcards
Down’s Syndrome is caused by
three copies of chromosome 21. It is also called trisomy 21
Dysmorphic features of down syndrome
Complications of down syndrome
Explain antenatal screening of down syndrome
The quadruple test is performed between 14 and 20 weeks gestation. It is identical to the triple test but also includes maternal blood for inhibin-A. A higher inhibin-A indicates a greater risk.
Antenatal testing of down syndrome
Management of down syndrome
Average life expectancy for down syndrome is
The average life expectancy is 60 years
There are some routine follow up investigations that are important for children with Down’s syndrome:
Regular thyroid checks (2 yearly)
Echocardiogram to diagnose cardiac defects
Regular audiometry for hearing impairment
Regular eye checks
Cystic fibrosis (CF) is an… genetic condition affecting which body parts?
Cystic fibrosis (CF) is an autosomal recessive genetic condition affecting mucus glands
CF is caused by…most common mutation is…this gene codes for…
- It is caused by a genetic mutation of the cystic fibrosis transmembrane conductance regulatory gene on chromosome 7.
- many variants of this mutation, most common delta-F508 mutation
- This gene codes for cellular channels, particularly a type of chloride channel.
The key consequences of the cystic fibrosis mutation are:
both parents are healthy, one sibling has cystic fibrosis and a second child does not have the disease, what is the likelihood of the second child being a carrier?
We know the child doesn’t have the condition, so the answer is two in three.
first sign of cystic fibrosis
Cystic fibrosis is screened for at birth with the
newborn bloodspot test.
If cystic fibrosis is not diagnosed shortly after birth it can present later in childhood with typical signs and symptoms…
recurrent lower respiratory tract infections
failure to thrive or
pancreatitis.
symptoms of CF
signs of CF
Causes of clubbing in children
There are three key methods for establishing a CF diagnosis that you should remember for your exams:
gold standard for confirming the CF diagnosis
sweat test
common microbial colonisers in CF: which 2 most important to remember
management of CF
monitoring in CF
CF prognosis including potential consequences of CF in the long term
Turner syndrome features
Turner syndrome associated conditions
Turner syndrome management
Patau syndrome definition
trisomy 13
Edward syndrome definition
Trisomy 18
Fragile X key features in males and females
black and white picture of asian kid
Fragile X definition
Noonan syndrome definition
- male Turner’s’, Noonan syndrome is an autosomal dominant condition associated with a normal karyotype.
- defect in a gene on chromosome 12
Noonan syndrome features
Prader Willi syndrome features
Prader Willi syndrome management
