Genetics

Question 1

Trisomy 13

Answer 1

Hypertelorism, cleft lip and palate, colobomas, small eyes and ears,
short neck,
holoprosencephaly, hypertonia, seizures,
ASD, VSD,
Multicystic kidneys, horseshoe kidneys,
polydactyly, scalp defects

Question 2

Trisomy 18

Answer 2

Triangular Facies, pointy rotated low set ears
Microcephaly,
hypertonia
multiple valvular abnormalities
omphalocele, renal abnormalities
overlapping fingers, rocker-bottom feet, decreased subQ tissue

Question 3

Trisomy 21

Answer 3

upslanting palpebral fissues, epicanthal folds, midface hypoplasia, short neck with redundant skin, hypotonia, AV canal, ASD, VSD, Duodenal atresia, hirschsprungs disease, brachydactyly, 5th finger clinodactyly, single transverse palmar crease, cutis marmorata

Question 4

Turner Syndrome

Answer 4

frontal prominence, low posterior hairline, short webbed neck, cystic hygroma, mild developmental delay, aortic coarctation, horseshoe kidneys, hand and feet lymphadema, multiple nevi

Question 5

Cri-du-chat

Answer 5

hypertelorism, round face, low-set ears, epicanthal folds, micrognathia, high pitched characteristic shrill, catlike cry

Question 6

Wolf-Hirschhorn Syndrome

Answer 6

hypertelorism, cleft palate, prominent glabella with Greek helmet warrior appearance, posterior scalp defects, seizures, severe Intellectual delay

Question 7

Prader Willi Syndrome

Answer 7

poor feeding, poor suck, bitemporal narrowing, almond shaped eyes, severe hypotonia, small hands and feet, lighter pigmentation then parents

Question 8

DiGeorge Syndrome

Answer 8

Short stature, prominent tubular nose, small ears, cleft palate, velopharyngeal insufficiency, absent/hypoplastic kidneys, Conotruncal heart defects: VSD, ASD, tetralogy of fallot, interrupted aortic arch, t-lymphocyte disfunction: frequent infection

Question 9

Williams syndrome

Answer 9

supraorbital fullness, stellate pattern of the iris, long philtrum, everted lower lip, nephrocalcinosis, renal artery stenosis, supravalvular aortic stenosis, hypercalcemia