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Flashcards in Genetics Deck (27):
1

cardiac abnormalities assoc. with Down syndrome?

atrioventricular septal defect-deficiency of atrioventricular septum, most common congenital heart defect in downs
VSD
tetralogy of Fallot
isolated persistent PDA

2

cardiac abnormalities assoc. with Turner syndrome?

coarctation of aorta
aortic valve stenosis

3

cardiac abnormalities assoc. with Noonan syndrome?

hypertrophic cardiomyopathy
ASD
pulmonary valve stenosis

4

what is an antrioventricular septal defect, and in which condition is this most commonly assoc. with?

Down syndrome-15-20% of pts,and responsible for 35-40% of congenital heart disease cases in Downs patients

defect: failure to form part of heart which develops from the endocardial cushions: lower part of atrial septum and ventricular septum just below AV valves, and cushions responsible for completing separation of mitral and tricuspid valves from a single valve. any or all of these may be involved.

5

how common is congenital heart disease in Down syndrome?

40% of patients

6

symptoms of an atrioventricular septal defect?

increased work of breathing-breathing harder and tachypnoea
sweat and/or tire out whilst feeding
slow growth or even weight loss

with complete defect, present with cyanosis and birth or heart failure at 2-3wks of life

7

common ECG feature of AV septal defect?

superior axis deviation (L axis deviation)-tallest R wave aVL-LV overload with mitral insufficiency and anomaly in AV conduction

8

most common genetic cause of severe learning difficulties?

Down syndrome

9

facial features of Downs?

flat occiput (brachycephaly) and '3rd fontanelle'-result of open suture*
upslanted palpebral fissures
epicanthic folds-fold of skin running across inner edge of palpebral fissure
brushfield spots in iris-little white spots
cataracts
small low set ears, can be stenotic meatus
round face and flat nasal bridge
small mouth and protruding tongue
high arched palate

10

clinical features on inspecting child with Downs, other than facial features?

hypotonia-arms and legs extended rather than flexing
single palmar crease (Simian crease) as small palms
incurved 5th finger towards ring finger (clinodactyly)
pronounced 'sandal' gap between big and second toe
short neck
hyperflexibility

11

RFs for having a baby with Downs?

maternal age-1/30 risk if age 45 yrs
FH
previously affected pregnancy

12

how might an extra chromosome 21 in Downs arise?

trisomy 21-meiotic non-disjunction -pair of chromosme 21s fail to separate so 1 gamete has 2 chromosome 21s (usually egg*), so gamete fertilisation forms zygote with trisomy 21, incidence related to maternal age.
translocation-extra chromosome joined onto another 1 (usually 14, can be 15, 21 or 22)=Robertsonian. 1 parent may carry a balanced translocation.
mosaicism-some cells have normal pair of chromosome 21s, some have 3 (trisomy), usually result on non-disjunction at mitosis after formation of chromosomally normal zygote, but can arise by later mitotic non-disjunction in trisomy 21 conception. Downs phenotype may be milder.

13

antenatal screening for downs?

all pregnant women offered screening tests measuring biochemical markers in blood samples-free beta-hCG and pregnancy assoc. plasma protein A-PAPP-A-reduced, and nuchal thickening on US
if books later in pregnancy, can do less accurate quadruple test-beta-hCG-raised, alpha-fetoprotein-reduced, inhibin-A-raised and unconjugated estriol-reduced, from 14+2 to 20+0 wks gestation.
+ve screening test if risk mum carrying downs baby is 1 in 150.
if increased risk of Downs in fetus identified then amniocentesis offered to check fetal karyotype if more than 15 wks gestation, chorionic villus sampling if less than 13 wks gestation. both carry increased miscarriage risk, doubled risk with chorionic villus sampling.

14

cardiac complications that may develop in adult patient with downs and without known congenital heart disease?

mitral valve prolapse
aortic regurge

15

Opthalmic and ENT complications in patients with Downs?

hearing loss-conductive, SN or mixed, should be assessed at annual r/v and should have auditory evoked potential testing before 6mnths of age.
otitis media
sinusitis
pharyngitis
OSA
cataracts
congenital glaucoma
refractive error
strabismus
keratoconus
nystagmus

16

GI disorders assoc. with downs?

duodenal atresia
oesophageal atresia or tracheo-oesophageal fistula
pyloric stenosis
meckel's diverticulum
hirschsprung's disease (most common GI complaint)-congenital aganglionic megacolon with absence of PNS ganglion cells in rectum ascending proximally and proximal dilated bowel
imperforate anus
GOR
dental problems-delayed and unusual eruption patterns, missing teeth
coeliac disease-should consider screening blood tests-anti-TTG IgA and total IgA 1st choice.

17

orthopaedic disorders assoc. with Downs?

atlanto-axial instability (also assoc. with AS)-neck pain, limited movements or symptoms/signs suggestive of cord compression, may be bladder problems, gait abnormalities or clumsiness
hyperflexibility
scoliosis
hip dislocation after 2 yrs (so note not picked up on neonatal ortolani and barlow tests)
patellar subluxation or dislocation
foot deformities

18

endocrine disorders assoc. with down's?

hypothyroidism-need annual TFTs

19

neurological and pscyhiatric associations of down's syndrome?

learning difficulties
behavioural problems
delayed motor milestones
epilepsy and seizures
early onset Alzheimer's-due to increase in beta amyloid protein assoc. with trisomy 21

20

haematological complications assoc. with down's?

acute myeloblastic leukaemia
acute lymphoblastic leukaemia-most common Ca of childhood
acute megakaryoblastic leukaemia
polycythameia and transient myeloproliferative disorder-self-limiting type of leukaemia which regresses spontaneously by 2mnths, may occur in newborns. *leukomoid reaction-transient reactive increase in WCC, can mimic leukaemia.
increased infection risk e.g. pneumonia due to impaired cellular immunity.

21

characteristic features of DiGeorge syndrome?

CATCH22-deletion on chromosome 22
congenital heart defects e.g. tetralogy of fallot
abnormal facies-hypertelorism, hooded eyelids, tubular nose, broad nose tip, small mouth, abnormal ears
thymus hypoplasia-low T cell numbers, immunodeficiency
cleft lip and palate
hypoparathyroidism-hypocalcaemia

feeding and swallowing difficulties-poor pharyngeal muscle coordination, GOR, dysphagia-silent aspiration and pneumonia, cardiac problems-SOB-difficulty feeding and faltering growth.
hearing loss
speech difficulties and developmental delay
behavioural and psychiatric problems e.g. ASD, ADHD

22

differential diagnosis for DiGeorge syndrome?

CHARGE syndrome:
coloboma
heart anomaly
atresia-choanal-back of nasal passage is blocked due to failure of nasal fossae to recanalize during fetal development
retardation-developmental and growth
genital anomaly
ear anomaly

23

Characteristic neurological manifestation of trisomy 21?

Hypotonia

24

clinical features of edward's syndrome (trisomy 18)?

low birthweight
prominent occiput
small mouth and chin
flexed, overlapping fingers
short sternum
'rocker-bottom' feet
cardiac and renal malformations

25

clinical features of patau syndrome (trisomy 13)?

structural defect of brain
scalp defects
microphthalmia and other eye defects
cleft lip and palate
polydactyly
cardiac and renal malformations

26

clinical features of Turner syndrome (45, X)?

short stature
lymphoedema of hands and feet in neonate, which may persist
low set ears
webbed neck/thick neck
shield like chest
widely spaced nipples
delayed puberty
infertility-ovarian dysgenesis-ovaries appear as 'streaks'
congenital heart defects, espec. coarctation of aorta
hypothyroidism
renal anomalies
pigmented moles
recurrent otitis media
normal intellectual function in most

27

treatment for Turner syndrome?

GH therapy
oestrogen replacement for development of secondary sexual characteristics at time of puberty, but infertility persists-however, may be able to get pregnant with use of IVF with oocyte donation.