Genetics Flashcards
Pathology of Downs syndrome
Trisomy 21
usually meiotic non-dysjunction
incidence of Downs syndrome
1/1000
increased risk with increasing maternal age
Symptoms and Signs of downs syndrome
learning difficulties
Dysmorphic features: Round face, flat occiput, protruding tongue, epicanthic folds, up slanting palpebral fissures, brush field spot in iris, single palmar crease, reduced tone, sandal gap
Ix downs syndrome
Chromosomes, echo, TFTs, tissue transglutaminase
Rx downs syndrome
developmental/ learning support
Cx of Downs syndrome
Hypothyroidism congenital hear disease leukaemia duodenal atresia coeliac disease hearing/ visual impairment alzheimers disease
life expectancy downs syndrome
50
which congenital heart disease is most common in downs syndrome?
atrioventricular septal defect (AVSD)
TURNERS Syndrome what is it?
whats going on genes wise
45 X0
only 1 X chromosome
Turners male or female?
female
signs and symptoms of turners syndrome
oedematous hands and feet as neonates, short stature, webbed neck, widely spaced nipples, wide carrying angle, horseshoe kidney normal IQ
Ix Turners syndrome
chromosome karyotyping
echo
Cx of turners syndrome
coarctation of Aorta
infertility
Kleinfelter’s syndrome genetics
47 XXY
Kleinfelter’s syndrome male or female?
undervirilized males
what happens in Kleinfelter’s syndrome
undervirilized males tall stature hypogonadism small testes gynaecomastia behavioural problems
Ix in Kleinfelter’s syndrome
Chromosome karyotype
Cx Kleinfelter’s syndrome
infertility
pathology of Fragile X
x linked recessive
fragile X male or female?
male
fragile X is second most common cause of …. after trisomy 21
congenital learning difficulties
Si and Sy of fragile X
low IQ, prominent ears, enlarged testicles
what does VACTERL syndrome stand for?
V stands for vertebrae, which are the bones of the spinal column.
A stands for imperforate anus or anal atresia, or an anus that does not open to the outside of the body.
C is added to the acronym to denote cardiac anomalies.
TE stands for tracheoesophageal fistula, which is a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube).
R stands for renal or kidney anomalies.
L is often added to stand for limb anomalies (radial agenesis).
what is marfans syndrome?
genetic disorder of the connective tissue
how do people with marfans syndrome appear?
tall thin long arms legs finger and toes
