Genetics

Question 1

ptosis, b/l facial paralysis, clubbed feet/talipes equinovarus, respiratory distress, mri findings and deficits involving 6th and 7th cranial nerve nuclei

Answer 1

Moebius sequence/syndrome

difficulties in resp or feeding from 6th and 7th cranial nerve deficits

Question 2

Renal stones, hepatomegaly, severe hypotonia, flat orbital ridges, flat nasal bridge
increased VLCFAs,

Answer 2

Zellweger syndrome/cerebro-hepato-renal

absence of hepatic and renal peroxisomes. autosomal recessive

Question 3

fibrous bone dysplasia/ribs/spine, pituitary adenomas, endocrine excess - hyperparathyroidism, hyperthyroidism, cushing’s, GH.
cafe au lait spots

Answer 3

McCune Albright

Question 4

Odor in B-methylcrotonyl glycinuria and multiple carboxylase deficiency

Answer 4

cat urine

Question 5

Musty or mousy urine odor

Answer 5

PKU

Question 6

Sweaty feet smell - what IEM?

Answer 6

isovaleric acidemia and
glutaric aciduria type II

Question 7

Most common heart defect in cat eye syndrome

Answer 7

TAPVR

Question 8

Most common heart defect in chromosome 22q11.2 deletion syndrome

Answer 8

conotruncal: tetralogy and interrupted aortic arch, truncus arteriosus, VSD

Question 9

Most common heart defect in holt-oram syndrome

Answer 9

ASD

Question 10

Most common heart defect in trisomy 13

Answer 10

VSD

Question 11

Most common heart defect in Williams

Answer 11

supravaulvar aortic stenosis

Question 12

Most common heart defect in ellis van creveld

Answer 12

common atrium

Question 13

Most common heart defect in Turner syndrome

Answer 13

1. bicuspid aortic valve
2. coarctation

Question 14

Which aneuploidy condition has aplasia cutis?

Answer 14

trisomy 13, patau

Question 15

occipital encephalocele, cystic renal dysplasia, and postaxial polydactyly

Answer 15

Meckel Gruber syndrome

Question 16

Coloboma, dysmorphic ears, hearing loss, down slanting palpebral fissures, mandibar hypoplasia

Answer 16

Teacher collins

Question 17

Small triangular faces, micrognathia, frontal bossing, skeletal asymmetry

Answer 17

Russell-silver syndrome

Question 18

Which IEM inherited via Xlinked?

Answer 18

OTC deficiency
Hunter’s
X linked adrenoleukodystrophy

Question 19

Smith-Lemli-Opitz - which enzyme has an issue, what builds up, what features?

Answer 19

Mutation in 7-dehydrocholesterol reductase which causes 7-dehydrocholesterol to increase
small philtrum, small chin, underdeveloped external genitalia in males, temporal narrowing, epicanthic folds, anteverted nostrils
Foot syndactyly

Question 20

Anotia
Hypotelorism
Renal cysts

Answer 20

Trisomy 13
Patau

Question 21

Clenched hands
Rocker bottom feet
Overlapping fingers

Answer 21

Trisomy 18
Edward’s

Question 22

Renal anomalies
Melanocytes nevi
Streak ovaries
Normal intelligence

Answer 22

Turner syndrome

Question 23

47 XXX girls

Answer 23

Question 24

47 XXY

Answer 24

Klinefelters
Language delay

Question 25

Triploidy associations

Answer 25

Usually 2 sperm and 1 egg Hydadiform mole

Question 26

Offspring of balanced translocation parents

Answer 26

Called an unbalanced translocation - they don’t have enough of each gene. 2 offspring on bottom right have disease. can either spontaneously miscarry or be born with birth defects

Question 27

How does uniparental disomy work?

Answer 27

Question 28

Answer 28

Achondroplasia

Question 29

Answer 29

Tuberous sclerosis

Question 30

Answer 30

Myotonic dystrophy Anticipation. CTG repeat in 3’ end of DMK. Number of repeats correlate w severity and mainly from maternal transmission. Therefore almost all congenital cases are from mom

Question 31

Answer 31

Congenital central hypo ventilation syndrome

Question 32

Answer 32

Incontinentia pigmenti

Question 33

Answer 33

Cornelia de Lange Most cases De novo autosomal dominant

Question 34

How to test? Pathophysiogy?

Answer 34

Fanconi Anemia Chromosome breakage on DEB testing Assoc with vacterl

Question 35

Answer 35

Goldenhar syndrome

Question 36

How is beckwith wiedemann inherited? What must be followed in life?

Answer 36

50% due to loss of DMR2 maternal methylation on 11p15.5 (loss of maternal) or can be paternal uniparental disomy. Two copies of the IGF-II gene are seen in the fetus and are paternal in origin Ultrasounds and afp for Wilms and hepatoblastoma

Question 37

Synophrys, micromelia, VSD, long curly eyelashes, IUGR and microcephaly

Answer 37

Cornelia de Lange

Question 38

Leukocytosis, persistent infections like perirectal abscesses, staph bacteremia, delayed separation of umbilical cord

Answer 38

LAD type 1 more common than type 2 in newborn period

Question 39

microcephaly, a cleft palate, down-slanting palpebral fissures, anteverted nares, 2-3 bilateral toe syndactyly, hypospadias and mild hypotonia How inherited?

Answer 39

Smith Lemli Opitz Due to a defect in cholesterol synthesis, affected infants have elevated 7-dehydrocholesterol levels.

Question 40

Seizures, mental deficiency, abnormal dentition, alopecia, and nail hypoplasia, vesicles on skin. What is on histology of vesicles?

Answer 40

incontinentia pigmenti eosinophils

Question 41

prominent occiput, micrognathia, clenched hands with overlapping digits, hypoplastic fingernails, and prominent heels with convex soles

Answer 41

trisomy 18 quad screen: low all except inhibin

Question 42

CHARGE syndrome caused by what gene and how inherited?

Answer 42

67% of cases are in mutations in CHD7 gene, autosomal dominant

Question 43

Hepatomegaly, hypotonia, macroglossia, cardiomegaly. what lab test to send?

Answer 43

pompe disease CK is very high

Question 44

hypertelorism with a cleft palate. A prominent glabella is noted and the infant's face/skull has the appearance of a Greek warrior helmet. Aplasia cutis is noted over the posterior scalp. Head circumference is also < 5% for gestational age. You are unable to palpate testes and infant demonstrates abnormal nail beds - hyperconvex

Answer 44

Wolf Hirsshorn deletion 4p

Question 45

Birthweight < 5%, clenched hands with overlapping of 2nd fingers over 3rd fingers over 4th fingers, small mouth with micrognathia, small umbilical hernia, cryptorchidism, single umbilical artery, ventricular septal defect, and rocker bottom feet.

Answer 45

Trisomy 18

Question 46

Low-set, posteriorly rotated ears, hypertelorism, ptosis, full lips, sometimes a broad/webbed neck with low hairline, pulmonary valve stenosis, hypertrophic cardiomyopathy, lymphedema, wide-spaced nipples, pectus excavatum or pectus carinatum, factor XI deficiency, and nuchal fold.

Answer 46

Noonan's CHD most common is pulmonary valve stenosis but 2nd most common is HOCM

Question 47

hypotonia, lethargy, metabolic acidosis with significant elevation of lactic acid, mildly elevated ammonia level, and significant cerebral and cerebellar atrophy

Answer 47

Pyruvate dehdyrogenase deficiency (mitochondrial disorder)

Question 48

Port wine stain/capillary nevus flammeus, ear fissure, exopthalmos, risk of intraabdoinal malignancies, organ hyperplasia

Answer 48

Beckwith Wiedemann

Question 49

Mental deficiency, seizures, capillary nevus flammeus, hemiparesis contralateral to the facial lesion, ipsilateral tram line intracortical calcifications, ipsilateral glaucoma/optic atrophy/buphthalmos

Answer 49

Sturge Weber

Question 50

Port wine stains Superficial vascular abnormalities Hypertrophy of bones or soft tissues

Answer 50

Klippel Trenaunay Weber

Question 51

Port wine stains with underlying spinal angiomas

Answer 51

Cobb syndrome or cutaneomeningospinal angiomatosis

Question 52

COL2A - what disorder? Inheritance?

Answer 52

Stickler syndrome Autosomal dominant - all COL disorders are AD

Question 53

FGFR3 gene - what disorder? Inheritance?

Answer 53

Thanatophoric dysplasia and Achondroplasia All autosomal dominant, most cases of all are sporadic so chances of passing on to next sibling is same as in general population if parents unaffected

Question 54

Most characteristic XR finding in what disorder is decreasing interpediculate distance from the upper to lower spine (decreased distance between each vertebra moving downward

Answer 54

Achondroplasia (FGFR3 defect)

Question 55

Narrow hyper convex fingernails VSD Cutis aplasia Colombo as Cleft lip/palate Etc Microcephaly

Answer 55

Trisomy 13

Question 56

Overlapping of 2nd finger over 3rd and/or 5th finger over 4th, small mouth, coarctation Short sternum

Answer 56

Trisomy 18

Question 57

CGG expansions leading to methylation/loss of function silencing of the FMR1 gene - what disorder? Inheritance?

Answer 57

Fragile X X linked dominant

Question 58

What are the main X linked dominant disorders?

Answer 58

Fragile Girls Love Vitamins Fragile X Girls: Rett’s syndrome (affects girls) Love: Incontinentia pigmenti (girls love derm) Vit: vit D resistant rickets

Question 59

Neutrophils on wright’s stain - which rash?

Answer 59

Neonatal pustular melanomas

Question 60

Eosinophils on wright’s stain - which newborn rash?

Answer 60

E.tox

Question 61

Most common CHD in VACTERL association

Answer 61

VSD