Important Numbers - Repro Ii

Front 1

Average age of menopause in the US

Back 1

51

Front 2

Percentage of reduction in hot flashes with estrogen treatment

Back 2

80-90%

Front 3

Percentage of premenopausal breast lumps that are benign

Back 3

90%

Front 4

Top cancers in females (US) in order of greatest incidence

Back 4

breast, lung, colon

Front 5

Top cancers in females (US) in order of greatest mortality

Back 5

lung, breast, colon

Front 6

Percentage of breast cancers occurring in women with genetic predisposition

Back 6

5-10%

Front 7

Lifetime risk of breast cancer in BRCA1/BRCA2 mutation carriers

Back 7

30-80%

Front 8

Decrease in ovarian cancer risk with 10 years of oral contraceptive use

Back 8

50%

Front 9

Ovarian cancer lifetime risk

Back 9

1/70

Front 10

Age to start Pap smear screening

Back 10

21

Front 11

Frequency of cervical cancer screening between ages 21 and 30

Back 11

2 years

Front 12

Age when low risk patients can be screened every 3 years

Back 12

30

Front 13

Age to discontinue screening per ACS

Back 13

70

Front 14

Number of months the American Academy of Pediatrics recommends
exclusive breastfeeding

Back 14

6 months

Front 15

Percentage of women who experience intimate partner violence in their lifetime

Back 15

29%

Front 16

Low risk HPV subtypes:

Back 16

6 and 11

Front 17

High risk HPV subtypes:

Back 17

16, 18, 31, 33, 35

Front 18

HPV subtypes covered by Gardisil vaccine

Back 18

6, 11, 16, 18

Front 19

Time period by which most cervical HPV infections are cleared-

Back 19

8-24 months

Front 20

Risk of endometrial carcinoma in patients with hyperplasia without atypia

Back 20

1-3%

Front 21

Risk of endometrial carcinoma in patient with hyperplasia with atypia

Back 21

up to 25-35%

Front 22

Specific mutation in DiGeorge syndrome?
Detection?

Back 22

deletion in 22q11.2

FISH

Front 23

Specific mutation in Down syndrome?
Detection?

Back 23

trisomy 21 (maternal nondisjunction)
OR
der(14), t(14;21)

karyotyping via CVS or amnio

Front 24

Specific mutation in Turner syndrome?
Detection?

Back 24

50%: 45,X (paternal nondisjunction)
Mosaics: 46,XX; 46,XY; 47,XXX
Structural: X isochromosomes, deletions, rings, translocations

Front 25

Specific mutation in PKU?
Detection?

Back 25

allelic heterogeneity, >400 mutations in phenylalanine hydroxylase gene on 12q23
OR
impaired recycling/synth of BH4 (biopterin)

filter paper spotting

Front 26

Specific mutation in MCAD deficiency?
Detection?

Back 26

K304E (most common) change in ACADM gene on 1p31

acylcarnitine species by tandem mass spectrometry from spotted filter paper; confirm w/ molecular testing for specific mutations

Front 27

Specific mutation in Prader-Willi syndrome?
Detection?

Back 27

Absence/methylation of paternal PW/Angelman region on 15q11.2-q13

1) methylation testing
2) FISH - deletions
3) microsatellite analysis - UPD

Front 28

Specific mutation in Huntington disease?
Detection?

Back 28

CAG trinucleotide expansion on 4p

PCR

Front 29

Specific mutation in Fragile X syndrome?
Detection?

Back 29

CGG trinucleotide in FMR1 gene on Xq27

Southern blot for full and pre-mutations/PCR for nl and small premutation

Front 30

Specific mutation in muscular dystrophy?
Detection?

Back 30

allelic heterogeneity in dystrophin on Xp21

Front 31

Mutation in cystic fibrosis?

Detection?

Back 31

allelic heterogeneity
F508 in CFTR gene on 7q31.2

DNA screening or IRT, followed by sweat test

Front 32

Which hereditary deafness syndrome is associated with PAX3 and MITF mutations?
AD or AR?

Back 32

Waardenburg Syndrome (telecanthus, pigmentary dysplasia)

AD

Front 33

Which hereditary deafness syndrome is associated with EYA1 mutation?
AD or AR?

Back 33

Branchio-oto-renal (BOR) syndrome

AD

Front 34

Which hereditary deafness syndrome is associated with SLC263A mutations?

AD or AR?

Back 34

Pendred syndrome (dysplastic chochlea, enlarged vestibular aqueducts, euthyroid goiter)

AR

Front 35

Which hereditary deafness syndrome is associated with retinitis pigmentosa?

AD or AR?

Back 35

Usher syndrome

AR

Front 36

What is the most common non-syndromic cause of hereditary hearing loss?
AD or AR?
Gene?
Protein product(s)?

Back 36

DFNB
AR
GJB2, GJB6
Connexin 26 and 30

Front 37

What mutation predisposes to hearing loss with aminoglycoside exposure?

Back 37

A1555G

Front 38

What type of inheritance pattern is Marfan Syndrome?

How is it detected?

What is the mutated gene/protein?

Back 38

AD

Sequence analysis

allelic heterogeneity; FBN1 gene on 15q21 (fibrillin)

Front 39

What is the most common mode of inheritance for mitochondrial diseases?

Back 39

autosomal recessive in nuclear genes

Front 40

Where are mitochondrial complexes I-V encoded?

Back 40

I, III, IV, and V - nuclear and mitochondrial DNA

II - only nuclear DNA

Front 41

What are the diagnostic clinical features of NF1?

Back 41

- cafe au lait spots
- axillary freckles
- Lisch nodules (iris hamartomas)
- optic gliomas
- neurofibromas
- bony lesions
- first-degree relative with NF1

Front 42

How is NF1 inherited?

Gene/protein?

Back 42

AD, allelic heterogeneity

NF1 gene on 17q (neurofibromin)