Genetics Flashcards

1
Q

head - dysmorphic child

A

macrocephaly or microcephaly

ear position - low, posterior

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2
Q

hand measurements - dysmorphic child

A

finger length
digital abnormalities
palmar creases

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3
Q

examples of conditions with hand signs

A

marfan

downs

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4
Q

VATER

A

vertebral anomalies
ano rectal atresia
trachea-oesophageal fistula
radial anomalies

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5
Q

Turner syndrome features

A
lymphoedema 
low hairline 
short stature 
infertility
coarctation of aorta
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6
Q

22q11 deletion syndrome - CATCH 22

A
Cleft palate 
abormal facies
thymic hypoplasia 
cardiac problems 
hypocalcaemia
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