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Board Review > Genetics > Flashcards

Genetics Flashcards

1
Q

name the defect:

carbamazepine

A

spina bifida

(esp early in pregnancy - days 15-29 after conception)

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2
Q

what may be present in fragile x carriers with premutation?

A

mild cognitive/behavioral deficits

premature ovarian failure

neurodegenerative disorder in older adults

(fragile x associated tremor/ataxia syndrome)

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2
Q

besides fragile x, what is another disease caused by a triplet repeat?

A

myotonic dystophy

autosomal dominant pattern

myotonia with progressive weakness and wasting

involvement of facial and jaw muscles

myotonia on grip testing

other involved organs: cataracts, testicular atrophy, diabetes, MR, premature frontal balding

congenital form

worse if inherited from mother

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2
Q

what findings are seen in NF2?

A

Bilateral eighth nerve masses seen with appropriate imaging techniques (e.g., CT, MRI)
or
A first-degree relative with NF-2 and a unilateral eighth nerve mass
or two of the following:
• Neurofibroma
• Meningioma
• Glioma
• Schwannoma
• Juvenile posterior subcapsular lens opacity

chromosome 22

also autosomal dominant

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3
Q

features of type 1 osteogenesis imperfecta?

A

blue sclera

rare fractures at birth, common in childhood

hearing loss

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3
Q

name the defect:

phenytoin

A

fetal hyadtoin syndrome

growth deficiency

devel delay

craniofacial anomalies

hypoplastic nails

vit K deficiency

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4
Q

congenital varicella

A

limb anomalies

chorioretinitis

skin scarring

devel delays

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5
Q

what syndrome includes:

jerky ataxic movements

fair hair

seizures

large chin

laughter

severe MR

A

angleman’s syndrome

deletion of maternal 15q11-13

“happy puppet”

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6
Q
A

klinefelter 47,XXY

meiotic nondisjunction

tall

gynecomastia

small testes

infertile

behavioral problems

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6
Q
A

NF1

cafe au lait spots

neurofibromas

axillary freckling

optic glioma

lisch nosdules (iris harmatomas)

learning disorders

60% are sporadic, but AD inheritance

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7
Q

name the defect:

retinoic acid

A

findings similar to digeorge

microcephaly

facial nerve palsies

microtia

ear anomalies

CV defects

thymic hypoplaisa

Gu anomalies

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7
Q
A

cornelia de lange

autosomal dominant

intrauterine growth retardation, persistent postnatal failure to thrive, moderate to severe cognitive impairment, and microcephaly with a flat occiput and low hairline. Facial features are quite distinctive and include long eyelashes; a fine, almost “brushed-on” appearance of the arch to the eyebrows; occasional synophrys due to hirsutism; small nose with anteverted nostrils; long philtrum; downturned upper lip with cupid’s-bow shape; and micrognathia

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10
Q
A

cri-du-chat 5p-

cat cry

moon face

wide spaced eyes

short stature

high palate

MR

heart defects in a 1/3rd

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11
Q
A

trisomy 18 (edwards)

IUGR

rocker bottom feet

clubfoot

clenched fist

overlapping fingers

VSD wtih dysplastic valves

more common in girls

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12
Q
A

treacher collins

mandibular and maxillary hypoplasia

zygomatic arch defects

ear malformations

colobomata

hearing loss

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13
Q

dislocated lens, high-arched palate, pectus, mitral valve prolapse?

A

marfan’s

autosomal dominant

aortic root dilation!

should avoid weight lifting

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13
Q
A

noonan syndrome

pulmonic stenosis

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15
Q
A

trisomy 13 (patau)

midline defects!

orofacial cleft

small eyes

postaxial polydactyly

holoprosencephaly

hypoplastic/absent ribs

gentical anomalies

cutis aplasia

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16
Q

what can be seen wtih tuberous sclerosis?

A

ash leaf spot (seen with woods lamp)

shagreen patch

infantile spasms

cardiac rhabdomyoma

polycystic kidney disease

autosomal dominant

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17
Q

what type of OI causes death at birth?

A

type 2, very severe

respiratory failure

multiple fractures

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18
Q

name the defect:

thalidomide

A

limb malformations

deafness

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20
Q

what is mode of inheritance?

A

xlinked recessive

clues:

  • only females can transmit to sons
  • if generation has only females, will have appeared to have skipped that generation
  • affected father transmits disease allele to all daughters
  • carrier females have 50% chance of passing on to sons
20
Q
A

achondroplasia

shorter proximal than distal parts of extremities

trident hands

macrocephaly

flat nasal bridge, prominent forehead, midface hypoplasia

autosomal dominant - usually new mutation however

increases with advanced paternal age

can have compression of cervical cord

20
Q

name the defect:

streptomycin

A

hearing loss

21
Q

what syndrome includes:

hypotonia at birth

obesity

short stature

small hands and feet

hypogonadism

A

prader-willi

deletion of paternal 15q11-13

22
Q

what is WAGR syndrome

A

Wilm’s tumor

Aniridia

GU malformations

Retardation (MR)

11p13- deletion

23
Q

what are the classic skin findings in ehlers-danlos?

A

hyperextensible skin

extra skin

texture of wet sponge/chamois

fragile, tears easily

thin shiny scars

increased brusing

mitral valve prolapse is common

23
Q

name the defect:

warfarin

A

nasal hypoplasia

stillpled epiphyses

24
Q

what is the most common presentation of van hippel-lindau?

A

cerebellar hemangioma in adolescence

retinal hemangioma before age 10

25
Q

what other disorder do you need to rule out in someone you think has marfans?

A

homocystinuria

27
Q

what causes this condition?

what other abnormailties may be present?

A

fragile x (xlinked-ish)

CGG repeat

MR

large head

long face, large ears

large hands/feet

large testes

hyperextensible joints

28
Q
A

turner syndrome

45,X

short stature

ovarian failure

lack of secondary sex characteristics

aortic vavle/coarct

thyroiditis

28
Q
A

fetal alcohol syndrome

29
Q

what tumors are commonly seen in patients wiht von hippel-lindau syndrome?

A

hemangiomas (cerebellum, retina)

pheo

endolymphatic sac tumors

kidney/pancreas cysts

renal cell carcinoma

neuroendocrine tumors

pancreatic tumors

31
Q

what main things make up hemifacial microsomia?

A

ear abnormalities with maxillary or mandibular hypoplasia

can also have cardiac or vertebral abnormalities

goldenhar syndrome: above plus fatty masses on the globes

32
Q
A

Alagille syndrome (20p12-)

AD inheritance

bile duct paucity with cholestasis

pulmonary valve stenosis

peripheral artery stenosis

triangle chin

34
Q

what is the mode of inheritance?

A

autosomal recessive

clues:

  • disorder in sibs but no other generations
  • males and females equally affected
  • males and females can pass it on
  • risk of 2 heterozygotes to have affected is 1/4
  • consanguinity increases risk of affected child
36
Q

which type of OI has the greatest risk of neurologic complications?

A

type 3

numberous fractures at birth

usually cant bear weight

37
Q

name the defect:

lithium

A

ebstein anomaly

(before 8 weeks gestation)

38
Q
A

apert syndrome

Brachycephaly due to coronal suture synostosis
Midface hypoplasia
Choanal stenosis
Cleft palate
Conductive hearing deficits

Symmetrical syndactyly of the hands
Cervical spine fusion

Cardiovascular anomalies
Hydronephrosis
Cryptorchidism

39
Q
A

22q11.2-

DiGeorge / velocardiofacial / CATCH22

cleft palate

absent thymus

tet of fallot / interrupted aortic arch / vsd

hypoparathyroidism

immune deficiency

hypocalcemia

41
Q
A

Williams syndrome

7q11.23 deletion

friendly personality

supravalvular AS

stellate pattern of the iris

down-turned lower lip

hypercalcemia

42
Q
A

wolf-hirschorn syndrome

4p-

“greek helmet” facies - hypertelorism, prominent glabella, frontal bossing

beaked nose

hypotonia

heart defects

seizures

43
Q

name the defect:

valproic acid

A

spina bifida

craniofacial anomalies

preaxial defects

44
Q

congenital rubella

A

up to 8 weeks: deafness

9-12 weeks: cataracts

12-30 weeks; heart defects

45
Q

name the defect:

diethylstilbestrol

A

vaginal adenocarcinoma in the offspring of the fetus at a later age

46
Q
A

crouzon syndrome

Brachycephaly due to coronal suture synostosis

Hydrocephaly with Chiari I malformation
Hypertelorism
Proptosis
Midface hypoplasia
“Beaked” nose
Cleft palate
Stylohyoid calcification
Conduction and/or neurosensory hearing deficit

Cervical spine fusion
Acanthosis nigricans

47
Q

what findings on maternal screen during pregnancy are indicators of down syndrome?

A

low AFP

low estriol

elevated hCG

elevated inhibin

48
Q

name the defect:

methotrexate

A

craniosynostosis

limb defects

craniofacial abnormalities

esp b/w weeks 6-9 of gestation

49
Q

features of OI type 4?

A

white sclera

milder form like type 1

tibial bowing!

51
Q

if you have a child with ear malformations, what else should you look for?

A

renal malformations

also consider other midline defects

52
Q

name the defect:

tetracycline

A

bone and tooth staining

53
Q

what is the mode of inheritance?

A

autosomal dominant

clues:

  • both sexes are equally affected
  • both sexes can transmit to offspring
  • no generation is skipped
  • every affected child has an affected parent
  • you see father to son transmission
54
Q

how is the ear displaced in positional plagiocephaly?

A

anterior displacement of ear and frontal prominence on the same side as the flattening (everything pushed forward)

Board Review (11 decks)

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