Memorize

Front 1

Kallman gene(s) and inheritance pattern(s)

Back 1

KAL1 (XL) FGFR1 (AD)

Front 2

Mutations in AR gene cause _____

Back 2

Androgen insensitivity syndrome

Front 3

Collagen 4 defect. Name syndrome

Back 3

Alport

Front 4

Predominant Hb on electrophoresis is Hb F

Back 4

Beta thal major

Front 5

Severe motor delay and hypotonia, microcephaly

Back 5

Canavan disease

Front 6

Cobblestone lissencephaly. Name syndrome

Back 6

Congenital muscular dystrophy - Walker Warburg

Front 7

Congenital progressive hypotonia + contractures. Name syndrome and inheritance pattern

Back 7

Congenital muscular dystrophy. AR

Front 8

Which triplet is repeated in myotonic dystrophy 1?

Back 8

CTG

Front 9

What is the most common terminal deletion syndrome

Back 9

Monosomy 1p36

Front 10

GLI3 gene syndrome(s) and inheritance pattern(s)

Back 10

Pallister-Hall and Greig cephalopolysyndactyly, AD

Front 11

Acute intermittent porphyria inheritance pattern and gene

Back 11

AD, HMBS

Front 12

CADASIL gene

Back 12

NOTCH3

Front 13

Which gene causes hypopigmention in Angelman syndrome

Back 13

OCA2

Front 14

Hypohydrotic ectodermal dysplasia inheritance pattern and main gene

Back 14

XL; EDA

Front 15

What does VACTERL stand for? How many features are needed to meet diagnostic criteria?

Back 15

At least 3 features needed

Front 16

Syndrome with characteristic maladaptive behaviours. I.e., self harm

Back 16

Smith Magenis

Front 17

RAI1 mutation

Name syndrome

Back 17

Smith magenis

Front 18

17p11.2 deletion. Name syndrome

Back 18

Smith Magenis

Front 19

CREBBP gene. Name syndrome

Back 19

Rubinstein Taybi

Front 20

What does CHARGE stand for?

Back 20

Coloboma, heart defect, atresia choanae, growth and mental retardation, genitourinary malformations, ear anomalies/deafness

Front 21

EYA1 gene. Name syndrome

Back 21

Branchio oto renal syndrome

Front 22

Branchio oto renal syndrome gene and inheritance pattern

Back 22

EYA1, AD

Front 23

What are the primary features of Bardet Biedl?

Back 23

Rod cone dystrophy, polydactyly, truncal obesity, LD, male hypogonadism, female genital abnormalities, renal anomalies

Front 24

Craniosynostosis and ambiguous genitalia. Name condition and inheritance pattern

Back 24

Antley bixler, AR

Front 25

Maternal virilization during pregnancy. Name condition in fetus

Back 25

Antley bixler

Front 26

Shawl scrotum. Name condition and inheritance pattern

Back 26

Aarskog, XL

Front 27

Stimulus induced drop attacks. Name condition

Back 27

Coffin Lowry

Front 28

DD, dysmorphic, fleshy hands with tapered fingers. Name condition

Back 28

Coffin Lowry

Front 29

RPS6KA3 gene. Name condition

Back 29

Coffin Lowry

Front 30

Name syndrome(s). PTPN11 gene

Back 30

Noonan and LEOPARD

Front 31

Alagille genes and inheritance pattern

Back 31

JAG1 NOTCH2, AD

Front 32

Butterfly vertebrae. Name condition

Back 32

Alagille

Front 33

Posterior embryotoxon. Name condition

Back 33

Alagille

Front 34

Albinism and bleeding problems. Name condition and inheritance pattern

Back 34

Hermansky pudlak, AR

Front 35

Inheritance pattern of diastrophic dysplasia

Back 35

AR

Front 36

Waardenburg syndrome is associated with an increased risk of which birth defect

Back 36

NTD

Front 37

Usher syndrome inheritance pattern

Back 37

AR

Front 38

MYO7A gene. Name condition and inheritance pattern

Back 38

Usher syndrome; AR

Front 39

Gene and inheritance pattern for Hutchinson gilford progeria

Back 39

AD, LMNA

Front 40

Which conditions have defective nucleotide excision repair?

Back 40

XP, Cockayne

Front 41

ERCC6 gene. Name condition

Back 41

Cockayne

Front 42

Name 2 disorders of premature aging. What are the inheritance patterns?

Back 42

Cockayne (AR) and progeria (AD)

Front 43

GNAS gene. Name condition

Back 43

McCune Albright

Front 44

Blueberry muffin baby. Name teratogen and trimester of exposure

Back 44

Rubella; first (8 to 10 weeks)

Front 45

Name a teratogenic exposure that decreases birth weight and one that increases birth weight.

Back 45

Cigarettes decreases, maternal diabetes increases

Front 46

Which teratogenic exposure mimics FASD?

Back 46

Toluene

Front 47

What is the critical period for thalidomide exposure?

Back 47

2 to 5 weeks GA. Aka 34 to 50 days post LMP

Front 48

Developmental regression, RP, hypotonia, seizures, ataxia, childhood onset. Name conditions.

Back 48

Leigh syndrome and NARP

Front 49

Name main gene and inheritance pattern for Cornelia de Lange

Back 49

NIPBL, AD

Front 50

Name main gene and inheritance pattern for kabuki

Back 50

MLL2

Front 51

Short stature, CHD, bleeding diathesis. Name condition

Back 51

Noonan

Front 52

Gene that can cause waardenburg type 1, 2 and 3

Back 52

PAX3

Front 53

Craniosynostosis with mitten type syndactyly. Name condition and gene

Back 53

Apert; FGFR2

Front 54

What is the chance of fetal infection if mother has CMV? what percentage of infected babies are symptomatic

Back 54

25%; 1-3%

Front 55

What are the main anomalies seen in fetal CMV infection?

Back 55

Growth restriction, ocular abnormalities, organ enlargement, cerebral calcifications, heart defects (GOOCH)

Front 56

Which feature are associated with fetal rubella infection.

Back 56

Skin, heart, ears, eyes, rubella (SHEER)

Front 57

Which dose of radiation is potentially teratogenic?

Back 57

> 5 rads

Front 58

What are the main teratogenic effects of maternal diabetes

Back 58

Heart defect, NTD, macrosomia (HNM)

Front 59

What are the main teratogenic effects of elevated maternal phenylalanine?

Back 59

Heart defect, ID/IUGR, microcephaly

Front 60

Blueberry muffin baby. Name teratogenic exposure.

Back 60

Rubella

Front 61

Name main teratogenic effects of warfarin.

Back 61

Limb hypoplasia, epiphyses stippled, respiratory distress due to nasal hypoplasia (LERN)

Front 62

Name main teratogenic effects of retinoid exposure.

Back 62

Brain, ears, heart, thymus (BETH)

Front 63

What is chance of having an affected baby if the mother used retinoids during the first trimester?

Back 63

30%

Front 64

Name teratogenic effects of ace inhibitor exposure

Back 64

Hypocalvaria, IUGR, Potter's sequence (HIP)

Front 65

What is the critical period for ACE inhibitor exposure?

Back 65

2nd to 3rd trimester (HIP problems later in life means later in pregnancy)

Front 66

Name gene for thanatophoric dysplasia, inheritance pattern and recurrence risk.

Back 66

FGFR3, AD, theoretical germline mosaicism

Front 67

Name 3 prenatal features of thanatophoric dysplasia

Back 67

Short long bones, IUGR, polyhydramnios, bowed femurs, cloverleaf skull, macrocephaly

Front 68

Craniosynostosis with 2 3 digit syndactyly of the hand. Name condition and gene

Back 68

Saethre-Chotzen, TWIST1

Front 69

Craniosynostosis with mitten hand syndactyly. Name condition and gene

Back 69

Apert; FGFR2

Front 70

What is the best way to establish a diagnosis for DMD or BMD?

Back 70

Molecular testing (del dup detects 75%, sequencing detects 25%)

Front 71

Describe the managment for homocystinuria

Back 71

Low protein diet, B6, B12 and betaine therapy

Front 72

For which ethnicities should hemoglobin electrophoresis be performed prior to pregnancy

Back 72

African, Mediterranean, middle eastern, south east asian, west indian

Front 73

Woman with PKU should maintain what levels of phenylalanine during pregnancy?

Back 73

6 mg/dL or less

Front 74

What is chance of microcephaly for fetus of mother with poorly controlled PKU?

Back 74

75%

Front 75

What is chance of DD for fetus of mother with poorly controlled PKU?

Back 75

90%

Front 76

What is chance of CHD for fetus of mother with poorly controlled PKU?

Back 76

10%

Front 77

What is the carrier frequency of PKU?

Back 77

1/60

Front 78

Under which circumstances does ASHG strongly recommend that research participants be recontacted?

Back 78

Updated results available which could impact medical management and research has appropriate resources to recontact

Front 79

Tf. Recontacting a research participant with updated results is not advised of the update is not expected to impact medical management.

Back 79

F. It is still advised but not as strongly

Front 80

Does ASHG support NIPT for sex chromosome abnormalities? For microdeletions?

Back 80

No, no