Paediatric Genetics Flashcards
What are the main genetic causes of developmental delay?
1) Chromosomal e.g. Down’s
2) Single Gene e.g. Duchenne
3) MicroDup/Del
4) Polygenic e.g. ASD/ADHD
What 2 diseases are examples of hypergonadotrophic hypogonadism?
1) Turner’s Syndrome 45X
2) Klinefelter’s 47XXY
Name a disease that is an example of hypogonadotropic hypogonadism.
Kallman Syndrome
What are the main S/S of Turner’s syndrome?
1) Delayed puberty
2) Short stature
3) Webbed neck
4) Recurrent otitis media
5) Low posterior hairline
6) CV/renal malformations
What are the main S/S of Klinefelter’s syndrome?
1) Azoospermia (Semen has no sperm)
2) Tall stature
3) Gynaecomastia
4) Reduced pubic hair
5) Testicle size <5ml
What is the PP behind Kallman syndrome?
1) Congenital deficiency of GnRH –> Poor pituitary stimulation
2) No release of FSH/LH causing gonadal secondary failure
What inheritance pattern does Kallman syndrome have?
X Linked Dominant/Recessive
What do 75% of people with Kallman syndrome have?
Anosmia
Name 3 congenital heart problems that are often associated with Turner syndrome.
Coarctation of the aorta.
Aortic stenosis.
Aortic dissection.
Name 3 diseases with AD inheritance.
ADPKD.
HD.
Marfan’s.
Give 3 characteristics of AD inheritance
Vertical transmission.
Male to male.
Every generation affected.
50% chance of inheritance.
Give 3 characteristics of AR inheritance
Both parents must be carriers.
Often only one generation is affected.
2/3 carrier risk for unaffected siblings.
Name 3 diseases with AR inheritance
CF.
Sickle cell.
Haemochromatosis
What is an example of an X linked disease?
Duchenne Muscular Dystrophy (Also Becker)
What are 3 main characteristics of X Linked?
Male > female affected.
No male to male transmission.
50% of daughters are carriers and 50% of sons are affected.
