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Laughing Pedi > Genetics > Flashcards

Genetics Flashcards

0
Q

short 4th 5th metacarpals, pedal edema, poor breast development

A

Turner

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1
Q

types of heart issues in Turner syndrome (2)

A

bicuspid aortic valve, coarct aorta

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2
Q

frequency of Turner

A

1:2500

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3
Q

most common chromosomal defect in spontaneous abortions?

A

45 XO, Turner

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4
Q

kidney issue in Turner

A

horseshoe kidney

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5
Q

Course curly hair, blue-green irides, low posterior hairline, low set ears, triangular faces, cryptoorchidism?

A

Noonan

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6
Q

Heart issues in Noonan? (2)

A

Pulm valve stenosis, Hypertrophic cardiomyopathy

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7
Q

Karyotype in Noonan?

A

normal

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8
Q

chromosome for Cri Du Chat?

A

5

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9
Q

craniosynostosis and syndactyly, choanal atresia, cervical spine fusion issues

A

Apert syndrome

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10
Q

ataxia, partial seizures, liver disease

A

Alpers syndrome (vs alpert, alporot)

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11
Q

renal disease, sensorineural hearing loss, cataracts

A

AlPORT

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12
Q

mutations causing Apert syndrome and what is it

A

premature fusion syndrome: choanal stenosis/atresia, craniosynostosis, syndactyly, ID
FGFR2 gene, chromosome 10

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13
Q

Cockayne syndrome skin issue?

A

light sensitive

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14
Q

Chromosome 11 associations (3)

A

Wilms
aniridia
Beckwith Weidemann

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15
Q

early aging syndrome w/o eye, photosensitivity

A

progeria

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16
Q

syndrome causing loss of minerals in urine, failure to thrive, rickets

A

Fanconi syndrome (not the anemia)

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17
Q

craniofacial dysostosis, high prominent forehead, shallow orbits, beak nose, stylohyoid calcification, chiari 1/hydroceph, hearing issues
what gene

A 
Crouzon, 
FGFR2 gene (like Apert)
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18
Q

Crouzon vs Apert?

A

Both craniofacial synostosis issues, Crouzon with orbit issue and more brain issue, hearing issue.

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19
Q

Freq of klinefelter?

A

1:800

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20
Q

most common sex chromosome abnormality?

A

XXY

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21
Q

size of testes in XXy

A

small

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22
Q

dev profile in XXY

A

expressive language delay, mild motor, social awkward

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23
Q

tall, gynecomastia and risk for BRCa,

A

XXY

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24
Q

genetic disorder group associated w/ Adv mat age?

A

trisomies

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25
Q

risk of recurrent DS in partial translocation?

A

15%

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26
Q

risk of DS at age 40 vs age 22?

A

40: 1/90
22: 1/1500

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27
Q

punched out scalp lesions, polydactyly, leukocyte nuclear projections, uterine issues, cleft lip/palate, cystic kidneys

A

trisomy 13 (Patau)

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28
Q

rocker bottom feet, clenched fist/overlapped fingers, hypoplastic nails, prominent occiput, horseshoe kidney, failure to thrive, hypertonia, CHD

A

Edwards, trisomy 18

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29
Q

ASD and upper limb defects, three-jointed thumbs

A

Holt oram

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30
Q

high uric acid, self mutilation, choreiform

A

lesch nyhan

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31
Q

irreg cafe au lait, fibrous dysplasia, precocious puberty.
Dx?
Defect?

A

Mccune albright

Defect is activating mutation in GNAS1 (adenylate cyclase-stimulating protein)

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32
Q

what is pseudo hypogonadism and its clue

A

normal sized genitalia but large body: clue: gynecomastia

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33
Q

laurence moon biedly syndrome features?

A

similar to prader willi but w/ lots more issues, progressive CNS, ophthalmologic (retinal dystrophy), endo issues.

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34
Q

loss or duplicates of which chromosome 15 results in PW vs Angelman?

A

PW: loss of paternal or two maternal
AS: loss of maternal or two paternal

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35
Q

CATCH 22
features
genetics

A

22q11, Digeorge

Cardiac (aortic arch), Absent thymus, Tcell def, Cleft palate, Hypocalcemia, 22chrom, microdeletion: FISH

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36
Q

Clue for X linked recessive

A

males affected
females carriers
no male–>male transmission

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37
Q

Inheritance for G6PD, chronic granulomatous disease?

A

x linked recessive: enzyme def

think: GXPD, CXGD

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38
Q

pattern of inheritance nephrogenic diabetes insipidus

A

X linked recessive

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39
Q

pattern of inheritance? Retinitis pigmentosa

A

X linked recessive

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40
Q

pattern of inheritance: testicular feminization

A

x-linked recessive

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41
Q

pattern of inheritance, wiskott aldrich

A

x linked recessive

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42
Q

distinguishing feature of Xlinked dominant (vs autosomal dom)

A

no male to male trm

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43
Q

pattern of inheritance: Vitamin D resistant rickets and pseudohypoparathyroidism?

A

X-linked dominant

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44
Q

Pattern of inheritance? Aicardi

A

X-linked dominant

45
Q

pattern of inheritance, Alport syndrome (renal disease, cataracts, hearing)

A

x-linked dominant

46
Q

TAR MAN of autosomal dominant conditions?

A

TS, Achondroplasia, Rb, Marfan, Apert (cranio), Nail-Patella syndrome, NF

47
Q

Additional Non-TARMAN AD disorders?

A

Waardenburg, Huntington, Peutz-Jegher, vWD, Gardner

GPHVW?

48
Q

GASP WHAT A (Recessive) Kartagener, for AR disorders? (10)

A

Galactosemia, A1AT, Sickle/Thal, PKU
Wilson, Hurler, Ataxia-Telangiectasia, Taysachs
Adrenogenital / Alpers
Kartagener

49
Q

When can CVS vs Amnio be done?

A

12 wk, 16 wk

50
Q

predicts fetal lung development?

A

phosphatidylglycerol component of surfactant

51
Q

AED w/ incr risk of spina bifida

A

carbamazepine, VPA

52
Q

AED causing finger stiffness, severe nail hypoplasia in utero

A

phenytoin

53
Q

Face described as broad bridge of nose, small anteverted nipples, long upper lip

A

AEDs

54
Q

opening of tricuspid valve too close to apex of right vent

name this and what causes it

A

Ebsteins anomaly, lithium in preg

55
Q

Features of teratogenicity isotretinoin

A

Microcephaly, microphathalmia, hypoplastic ears, truncus arteriosis, absent thymus
(shrinks pimples, but also head, eyes, ears, thymus and throws in truncus!)

56
Q

effects of warfarin on fetus

A

depressed nasal bridge, short nose, hypoplastic distal phalanges, stippled epiphyses

57
Q

ACEi in fetus

A

anuria, oligo, hypoplasia of skull, fetal hypotension

58
Q

CHARGE association?

A 
Coloboma/cognitive
heart
atresia (choanal)
retarded growth
GU (genital hypoplasia)
Ear anomaly/hearing loss 	p
59
Q

VACTER-L?
Prego finding?
Intelligence?

A 
Vertebral defects
Anal atresia
Cardiac/VSD
TE Fistula
Radial hypoplasia, Renal anomaly
Limb abnormalities
  • Single umbilical artery
  • Normal Intelligence
60
Q

when should craniosynostosis be corrected?

A

before 5mos!

61
Q

amnion nodosum, glove like excess hand skin

A

Potters, yellow nodules on fetal membranes

62
Q

broad thumb, cryptoorchidism

A

Rubinstein-Taybi (thumby)

63
Q

Pfeiffer syndrome?

A

thumbs, great toes broad and eyes prominent/widely spaced

64
Q

triangle face, small chin, growth retardation

A

Russel Silver syndrome

65
Q

bladder outlet obstruction, oligohydramnios, pulm hypoplasia, testes undescended

A

Prune belly from lack of abdominal muscle development

66
Q

conductive hearing loss, small jaw/ear anomaly, lower eyelid anomaly?
IQ?
GEnetics

A

Treacher Collins
Normal IQ (Teacher can’t open eyes or hear though)
Dominant teacher AD

67
Q

rhizomelic shortening?

A

short limbed dwarfism, esp of proximal limb in achondroplasia

68
Q

brain issue in achondroplasia

A

foramen magna small: nerve root compression

69
Q

coarse face, corneal clouding, thick skulls

Genetics?

A

Hurler, MPS type 1

autosomal recessive

70
Q

hunter vs hurler

A

hunter: x linked, NO corneal clouding, hunter’s have skeletal abnormalities and are short

71
Q

Hypercalcemia and supravalvular aortic stenosis?

A

Williams

72
Q

most common chromosomal cause of ID?

A

Fragile X

73
Q

testicle size in Fragile X

A

macro

74
Q

trinucleotide in FrX

A

CGG, do DNA testing

75
Q

pointed nose, bird like face, small eyes, small teeth

A

Hallermann Streiff syndrome

76
Q

posterior positioning of tongues, small chin, cleft palate, extremity anomalies: syndactyly, clinodactyly, hip/knee anomaly, spinal deformity, CNS issues?
long term complication?

A

Pierre Robin

Cor pulmonale

77
Q

primary defect in achondroplasia?

A

FGFR3: fibroblast growth factor

78
Q

dwarfism that is lethal?

A

Thanatophoric dysplasia

like achondroplasia, but lethal b/c of pulmonary hypoplasia

79
Q

Treatment needed in Marfan?

Primary defect?

A

Atenolol, Losartan for aortic root dilation

primary defect: Fibrillin

80
Q

primary defect in osteogenesis imperfecta?

Tx?

A

collagen type 1 (COL1A1 or COL1A2)

tx: bisphosphonate, ? GH

81
Q

Blue sclerae, macrocephaly, growth retardation, triangular face, limb asymmetry

A

Russell Silver syndrome

82
Q

ASD, no thumb (looks like five fingers or absent or hypoplastic)
Dx and primary defect?
Form of trm?

A

Holt Oram

AD, (TBX5 defect = transcription factor, controlling master gene)

83
Q

lid coloboma, hypertelorism, hypoplastic ears, micrognathia, cleft palate, palpebral fissures downslanting
Dx? Defect?

A

Treacher Collins

AD

84
Q

Hemifacial microsomia, unilateral ear anomaly, micrognomia, dermoid, colobomas, Cspine abnormality, hearing loss?
DX and what is it?

A 
Goldenhar syndrome (facio-auriculo-vertebral spectrum)
Sporadic, unilateral:  defect is from disrupted stapedial artery / 1st/2nd branchial arch defect
85
Q

short stature, synophyrs (unibrow), anteverted nares, long philtrum, “carp” mouth, ID, cardiac defects, upper limb anomaly, low hairline

A

Cornelia deLange

86
Q

classic X-linked dominant disorder?

A

Rett

87
Q

% of fetal dilantin syndrome in exposed fetus

A

10%

88
Q

trisomy 18 vs trisomy 13

A

polydactyly, cutis aplasia, microphthalmia is trisomy 13

89
Q

% of trisomy 18 or 13 that survive 1 year

A

10

90
Q

infantile / fetal lymphedema

A

turner

91
Q

which is imprinted and which is duplicated in PW vs AS

A

PW: maternal activated, paternal imprinted
AS: paternal activated, maternal imprinted

92
Q

first test for Angelman Syndrome or PW

A

methylation study

93
Q

hypercalcemia in newborn period should raise concern for what syndrome?

A

Williams

94
Q

likely diagnosis of elephant man, Joseph Merrick

A

Proteus and NF1?

95
Q

TS chromosome defects (2)

A

tuberin chromosome 16

hamartin chromosome 9

96
Q

eye issue that can be seen in Sturge Weber/

A

glaucoma (60%)

97
Q

inheritance Sturge Weber?

A

sporadic

98
Q

Klippel Trenaunay Weber?

A

sporadic w/ port wine stain extremities, normal intellect, hemangiomas, hemihypertrophy
NO FACE / BRAIN involvement

99
Q

iris heterochromia and white forelock, other white spots (leukoderma), cochlear deafness

A

Waardenburg Syndrome

100
Q

Two x-linked dominant diseases

A

Rett

Incontinentia Pigmenti

101
Q

features of incontinentia pigmenti

Swirled lesion

A

Skin changes: vesicular, papular, HYPERpigmented, atrophic alopecia, retinal abnormality, retinal abnormlatiy, tooth issue, ID
*Swirled pattern on the skin is from lyonization or mosaicism

102
Q

hypomelanosis of ito: whorls has what other issues/

A

dental, colobomas, cataracts, limb anomalies, ID, sz, neuronal migration anomaly

103
Q

Tons of “omas” and PTEN mutations?

Port wine stains, lots of masses, skin issues, hemihypertrophy…

A

Proteus

104
Q

conditions with cherry red spot

A

Tay sachs, Sandhoff, Nieman pick, GM1 gangliosidosis-HSM

105
Q

diagnosis of Tay sachs?

A

measure beta hexaminidase in WBC/DNA testing

GM2 ganglioside

106
Q

Immunologic issue in ataxia telangiectasia

A

absence of IgA and decreased IgE

107
Q

adrenal calcification, HSM, v/d, growth failure

Dx and defect

A

Wolmans Dz, lysosomal acid lipase defect

108
Q

adrenal insufficiency, dysmorphism, gonadal dysgenesis, limb anomaly, FTT?
Dx and defect

A

SLO, 7-dehydrocholesterol C7 reductase def

109
Q

normal cosyntropin response?

A

peak value > 18mcg/dL or difference of basal and stimulated value >9mcg/dL

110
Q

carrier rate of CF

rate of CF

A

1/25 carrier

1/3300 in caucasions

Laughing Pedi (24 decks)

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