Genetics Flashcards
What are the features of Down’s Syndrome?
Hypotonia Brachycephaly Epicanthic folds Upward sloping palpable fissures Single palmar crease Atlantoaxial instability
Leukaemia and dementia are more common.
What testing is done for DS?
Beta-HCG
PAPPA
Triple test, 14-20 weeks gestation:
Beta-HCG
AFP
Serum oestriol
Who does Klinefelter Syndrome effect?
males with additional X chromosome, 47 XXY.
How does Klinefelter Syndrome present?
Normal until puberty then grow more feminine features.
Taller, wider hips, gynaecomastia, weak muscles, small testicles, reduced libido, subtle learning difficulties.
What are management options for Klinefelter Syndrome?
Testosterone injections
Breast reduction surgery
What are people with KS at increased risk of suffering with?
Breast cancer
Osteoporosis
Diabetes
Anxiety + depression
What is Turner Syndrome?
45 XO
Females only.
What are the features of Turner Syndrome?
Short with webbed neck and widely spaced nipples.
Cubitus Valgus
What is William Syndrome?
Deletion of one copy of Chr7. Random deletion.
What are the features of William Syndrome?
Very sociable, starburst eyes and wide mouth with a big smile.
What are conditions associated with William Syndrome?
Supravalvular aortic stenosis
Hypercalcaemia
What are the features of Noonan’s Syndrome?
Hypertelorism (wide spaced eyes)
Short, broad head and low set ears.
What conditions are associated with Noonan’s?
Congenital heart disease
Cryptorchidism
Increased risk of leukaemia and neuroblastoma
What is Fragile X Syndrome?
Caused by a mutation in FMR1 gene on the X Chromosome.
X-linked, males are always affected but there’s uncertainty in females.
What are the features of Fragile X?
Delay in speech + language.
Large ears, large testicles, hypermobility.
