genetics Flashcards
(22 cards)
clinical features of down’s syndrome
face: upslanting palpebral fissures, epicanthic folds, brushfield spots in iris, protruding tongue, low set ears, round/flat face
flat occiput
single palmar crease
hypotonia
congenital heart defects
duodenal atresia
hirschspring’s disease
cardiac complications with down’s syndrome
endocardial cushion defect (most common)
ventricular septal defect
secundum atrial septal defect
tetralogy of fallot
isolated patent ductus arteriosus
later complications of down’s syndrome
subfertility
learning difficulties
short stature
repeated respiratory infections
acute lymphoblastic leukaemia
hypthyroidism
alzheimer’s disease
atlantoaxial instability
features of klinefelter’s syndrome
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia
low testosterone
how to diagnose klinefelter’s syndrome
karyotype
how is turner’s writen
45, XO or 45X
features of turner’s syndrome
short stature, widely spaced nipples
webbed neck
bicuspid aortic valve, coarctation of the aorta
primary amenorrhoea
cystic hygroma
high arched palate
short fourth metacarpal
multiple pigmented naevi
lymphoedema in neonates
raised gonadotrophin levels
what are the most serious long term health problems for turner’s syndrome
aortic dilatation and dissection
what causes noonan syndrome
defect on chromosome 12
how does noonan syndrome present
webbed neck
pectus excavatum
short stature
pulmonary stenosis
what is marfan’s syndrome
autosomal dominant connective tissue disorder
defect in the gene that codes for protein fibrillin-1
features of marfan’s syndrome
tall
high arched palate
arachnodactyly
pectus excavatum
pes planus
scoliosis
heart: dilation of the aortic sinuses, mitral valve prolapse
penumothorax
eyes: upwards lens dislocation, blue sclera, myopia
dural ectasia
management of marfan’s syndrome
regular ECG
beta blocker/ACE i
what is fragile X
trinucleotide repeat disorder
features of fragile X syndrome in males
learning difficulties
macrocephaly
long face
large ears
macro-orchidisim
diagnosis of fragile X
antenatally by chorionic villus sampling or amniocentesis
difference between prader-willi and angelman
phenotype depends on whether the deletion occurs on a gene inherited from the mother or father
gene deleted from father: prader-willi
gene deleted from mother: angelman
what chromosome is affected in pradar-willi
long arm of chromosome 15
features of pradar-willi
hypotonia
hypogonadism
obesity
presentation of angelman syndrome
delayed development and learning
delay of speech
fascination with water
happy demeanour
inappropriate laughter
wide mouth with widely spaced teeth
what is william’s syndrome
inherited neurodevelopmental disorder caused by microdeletion on chromosom 7
presentation of william’s syndrome
elfin-like facies
characteristic like affect-friendly and social
learning difficulties
short stature
transient neonatal hypercalcaemia
