genetics

Question 1

GA for chorionic villus sampling

Answer 1

12 weeks

Question 2

GA for amniocentesis

Answer 2

16 weeks

Question 3

XL dominant conditions

Answer 3

hypophosphatemic rickets
pseudohypoparathyroidism
Aicardi syndrome
Alport syndrome

Question 4

penetrance

Answer 4

some people exhibit the phenotype of the gene and some don’t

Question 5

expression

Answer 5

range of phenotypes for people with same genetic condition

Question 6

when to order FISH testing

Answer 6

looking for contiguous gene deletions or duplications - copy number variants

Question 7

short stature, webbed neck, L-sided congenital cardiac defects

Answer 7

45XO, Turner syndrome
higher likelihood of diabetes or IBD
elevated FSH

karyotype, FISH for mosaicism

Question 8

webbed neck, downslanting eyes, triangular facies, hearing loss, pectus carinatum/excavatum, cryptorchidism, MR, pulmonary stenosis

Answer 8

Noonan syndrome

Question 9

inheritance/genetics of Marfan

Answer 9

AD

fibrillin gene on Chr 15

Question 10

asymmetric pectus carinatum

Answer 10

Marfan

Question 11

translocation and risk of transmission

Answer 11

15% if partial, 100% if full

higher if mother is carrier of translocation

Question 12

increased risk of which things with T21

Answer 12

leukemia
duodenal atresia
AV canal defects (NW axis on EKG)
atlantoaxial instability

Question 13

rocker bottom feet, overlapping fingers, microcephaly, horseshoe kidneys

Answer 13

T18

Question 14

polydactyly, cutis aplasia, cleft lip/palate, cystic kidneys, abnormal female GU

Answer 14

T13

Question 15

tall, infertile teen, small testes, normal intelligence but social awkwardness, gynecomastia

Answer 15

Klinefelter (47XXY)

tx: testosterone supplementation

Question 16

neonatal hypotonia and FTT –> obesity, small testicles, ID

Answer 16

Prader Willi
15q11
methylation test

Question 17

frequent laughter, ataxia, speech impairment, spasticity/jerky movements

Answer 17

Angelman
15q11
methylation test

Question 18

omphalocele, macroglossia, hypoglycemia, hemihypertrophy

Answer 18

Beckwith Wiedemann

dx methylation test

Question 19

malignancy risk with Beckwith Wiedemann

Answer 19

embryonal tumors-
rhabdomyosarcoma
Wilms
neuroblastoma

Question 20

screening needed in Beckwith Wiedemann

Answer 20

AFP q 6 weeks

abdominal US every 3 months

Question 21

elfin face, wide spaced teeth, very friendly, hypercalcemia, supravalvular aortic stenosis

Answer 21

Williams syndrome

chr 7

Question 22

genetics/inheritance of DiGeorge

Answer 22

AD inheritance
22q11
dx with microarray

Question 23

genetics/inheritance of CHARGE

Answer 23

AD (spontaneous) mutations in CHD7 gene

Question 24

broad thumb, cryptorchidism

Answer 24

Rubenstein Taybi

Question 25

broad thumbs and toes, widely spaced prominent eyes

Answer 25

Pfeiffer syndrome

Question 26

male with ID, long narrow face, protruding ears, high arched palate, macroorchidism

Answer 26

Fragile X CCG expansion need fragile X testing

Question 27

flat philtrum, thin vermilion border, midface hypoplasia

Answer 27

FAS

Question 28

risks with maternal smoking

Answer 28

``` LBW miscarriage placental abruption/previa cleft lip/palate respiratory prolems SIDS deficits in mental development, language, ADHD, IQ ```

Question 29

neural tube deficits and facial deformities

Answer 29

valproic acid or carbamazepine exposure

Question 30

finger stiffness, nail hypoplasia, cardiac anomalies

Answer 30

phenytoin

Question 31

Potter syndrome

Answer 31

renal agenesis --> facies hypoplastic lungs limb malformations "glove like" excess skin on hands, fetal membranes with yellowish nodules

Question 32

triangle face, growth retardation

Answer 32

Russell Silver

Question 33

cause of prune belly

Answer 33

bladder outlet obstruction --> oligohydramnios | undescended testes

Question 34

facial abnormalities, conductive hearing loss, normal IQ

Answer 34

Treacher Collins | AD inheritance

Question 35

complications of achondroplasia

Answer 35

lumbar lordosis small foramen magna --> nerve root compression sleep apnea increased risk of SIDS