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ABP BOARDS > Genetic > Flashcards

Genetic Flashcards

1
Q

elf like facies, intellectual disabilities and idiopathic hyperCa of infanct

A

William Syndrome

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2
Q

Heart defect with elf like facies, ID and hypercalcemia in infancy

A

Supravalvular aortic stenosis

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3
Q

Heart defect in William syndrome

A

supravalvular aortic stenosis

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4
Q

Other findings of sturge weber

A

seizures, choroidal vascular malfomration, cutaneous capillary malformation.

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5
Q

PHACE syndrome

A

posterior fossa abnormalities, segemental hemangiomas, arterial anomalies, cardiac anomalies, and eye anomalies

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6
Q

What do you worry about with a congnital vascular malformation of the face (around eye)

A

glaucoma

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7
Q

Genetic test for PHACE syndrome or Sturge weber

A

somatic mutation of GNAS that leads to capillary malformation

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8
Q

Caffey disease

A

infantile cortical hyperostosis

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9
Q

mutation for infantile hyperostosis or caffey disease

A

COL1A1 single mutation

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10
Q

Caffey syndrome characteristics

A

fever, irritability, anorexia, soft tissue swelling with subperiosteal cortical thickening of underlying m=bone

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11
Q

fetal hydantoin syndrome

A

when mom is taking phenytoin

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12
Q

dysmorphic features in infants with mothers taking pheyntoin

A

orofacial clefts, cardiac defects, GI defects, hypertelorism

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13
Q

findings for fetal alcohol syndrome

A

IUGR, microcephaly, ocular anomalies, joint anomalies, ID, and short palpebral fissures

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14
Q

findings in infants with retinoic acid exposure

A

microcephaly, external auditory canal anomalies or micortia, cardiac defects, thymic hypoplasia, facial nerve palsies or GU anomalies

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15
Q

presentation of GSD

A

hepatomegaly, FTT, hypoglycemic seizures. No response to glucagon

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16
Q

hypoglycemia with urine ketones but no reducing substances

A

GSD

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17
Q

hypoglycemia with elevated urine reducing substances and elevated ketones

A

galactosemia

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18
Q

Infants with galactosemia are at risk for what infection

A

E coli sepsis

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19
Q

Bloom syndrome symptoms

A

congenital telangiectatic erythema. photosensitivity, severe cheilitis, growth deficiency, primary hypogonadism and inc risk neoplasms

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20
Q

dysmorphic characteristics blooms syndrome

A

long face with narrow mandible, malar hypoplasia, large protruding ears

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21
Q

voice is high pitched and “bird like” with this condition

A

blooms syndrome

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22
Q

Features of stickler syndrome

A

midface hypoplasia, micrognathia, cleft palate, glossoptosis, high myopia and risk for retinal detachment

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23
Q

what is sweet syndrome

A

acute febrile neutrophilic dermatosis. fever with painful skin lesion on arms, neck, face and back

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24
Q

Apert syndrome characteristics

A

craniosynostosis, syndactyly, beaked nose, bulging wide set eyes, under developed upper jaw

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25
Q

what tumors are children with beckwith wiedemann syndrome at risk for

A

wilms tumor and hepatoblastoma

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26
Q

what annual screening do children with beckwith wiedemann need?

A

annual renal US to look for nephrocalcinosis or medullary sponge kidney
abdominal US every 3 months until 4 years of age

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27
Q

what tumor is von hippel lindau syndrome assoiated with

A

pheochromocytoma

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28
Q

MEN type 2 is associated with increased risk for what

A

medullary thyroid carcinoma

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29
Q

Findings in NF1

A

cafe au lait spots (more than 6), axilary or inguinal freckling, lisch nodules (hamartomas of the iris) >2 neurofibromas, osseous lesions of bones or scoliosis.

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30
Q

Findings in Tuberous sclerosis

A

ash leaf macules, adenoma sebaceum, periungal fibroms, shagreen patches

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31
Q

heart defect associated with turner syndrome

A

bicuspid aortic valve

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32
Q

what is incontinentia pigmenti

A

x linked dominant disorder lethal in males

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33
Q

systemic manifestations of icontinentia pigmenti

A

dental changes- pegged teeth, nail changes and alopecia. neovascularization of the retina

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34
Q

translucent bluish nonblanching fluctuant sweling lateral to midline of the lower mouth

A

ranula- anomalous sublingal gland or acquired after trauma

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35
Q

What is a bohn nodule

A

whitish or clear inclusion cysts that appear as rounded papules along the alveolar ridge in newborns

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36
Q

What do you need to treat hypophosphatemic rickets

A

phos and calcitriol

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37
Q

Findings of Tuberous sclerosis

A

benign hamartomas, facial angiofibromas, ash leaf spots, shagreen patch, brownish plaques on forehead. Periungal fibromas, cardiac rhabdomyoma, cortical tubers

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38
Q

genetic defect of Tuberous sclerosis

A

autosomal dominant gene defects on chromosome 9q or 16q (TSC1 or TSC2) both responsible for tumor suppression

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39
Q

Findings with Peutz- Jegher syndrom

A

small dark colored spots on lips around and inside mouth. Perianal lentigines.
Polyps in stomach or intestines that can cause obstructions, bleeding and pain

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40
Q

Findings of spina bifida

A

enlarged head circumference, myelomeningocele, club feet and hydrocephalus usually due to chiari type II

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41
Q

findings of apert syndrome

A

mitten hand deformity- fused bones with shared nail bed, severe craniosynostosis, bicoronal synostosis associated with maxillary hypoplasia. midfacial hypoplasia- shallow orbits, hypertelorism

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42
Q

Findings of Popliteal pterygium syndrome or Escobar syndrome

A

extensive pterygiums from knee down to heel with malformed toenails and webbed toes. Dysplasic patella sometimes.

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43
Q

Kallman syndrome fnidings

A

hypogonadotropic hyogonadism. anosmia, cleft lip and or palate, congenital heart disease, renal agenesis

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44
Q

inheritance of kallman syndrome

A

x lined autosomal dominant

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45
Q

Skin findings with neuroblastoma

A

subcutaneous bluish nodules and periorbital ecchymoses associated with proptosis.

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46
Q

Urine findings or neuroblastoma

A

homovanillic and vanillylmandelic acid

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47
Q

Prune Belly syndrome triad

A

undescended testes, GU anomalies, partial hypoplasia of abdominal musculature

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48
Q

what is associated with solitary median maxillary central incisor

A

growth hormone deficiency, sometimes empty sella and pan hypopit

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49
Q

What is associated with central incisor

A

midline defects like cleft lip and palate, midline structures of brain, falx cerebri, choanal atresia, midnasal stenosism pyriform aperture stenosis

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50
Q

What does CHARGE syndrome stand for

A

coloboma of eye, heart defects, atresia of nasal choane, retarded growth, genital and or urinary abnormalities and ear abnormalities or deafness

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51
Q

What does VACTERL stand for

A

vertebral anomalies, anal atresia, CV anomalies, TEF, renal and or radial anomalies, limb defects

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52
Q

Findings of Crouzon syndrome

A

craniosynostosis, midface hypoplasia, proptosis, normal intelligence, normal hands and feet

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53
Q

Findings of carpenter syndrome

A

fusions of multiple sutures, syndactyly, intellectual disability, CHD sometimes, corneal opacities

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54
Q

Pfeiffer syndrome findings

A

bracycephaly, midface hypoplasia, finger/tow abnormalities.

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55
Q

What is Sotos syndrome

A

cerebral gigantism

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56
Q

Findings of sotos syndrome

A

macrocephaly, excessive physical growth in early childhood and intellectual disability.

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57
Q

Shwachman-Diamond Syndrome findings

A

recurrent infections, pancreatic exocrine insufficiency (stinky stools) and neutropenia

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58
Q

mutation in Shwachman diamond sndrome

A

SBDS fene

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59
Q

What mutations can lead to Kostmann syndrome

A

HAX1 and ELA2

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60
Q

What are findings of Kostmann syndrome

A

profound neturopenia

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61
Q

What condition has autoantibodies against neutrophils

A

chronic benign neutropenia of childhood

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62
Q

What mutation is associate with cyclical neutropenia

A

ELA2

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63
Q

What is Berger disease

A

IgA nephropathy

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64
Q

findings of IgA nephropathy on biopsy

A

mesangial deposits of the glomerulus and gross hematuria following upper respiatory infections or GI infections

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65
Q

Findings with Alport syndrome

A

bilateral sensorineural hearing loss, gross hematuria

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66
Q

What are C3 levels in IgA nephopathy

A

normal

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67
Q

IgA deficiency are associated with increased risk of what conditions

A

celiac disease, IBD, hashimoto thyroiditis, JIA, dermatomyositis, SLE, DM type1

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68
Q

What infection GI wise are those with IgA predisposed for

A

giardia

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69
Q

Cardiac defects seen in CHARGE syndrome

A

aoritc arch anomalies, right subclavian artery, VSDs, TOF

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70
Q

what conditions are associated with subluxation of ocular lens

A

marfan syndrome ane homocystinuria

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71
Q

What heart defect is associated with marfan syndrom

A

mitral valve prolapse- mid systolic click

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72
Q

findings of treacher collin syndrome

A

mandibulofacial dysostosis. outer and middle ear malformations– hearing loss. boney hypoplasia, choanal stenosis or atresia, cleft palate with or without cleft lip
palpebral fissues down slanting with hypoplastic lower eyelids and no lower eyelid lashes

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73
Q

Urea cycle disorders

A

carbomyl phosphate synthetase deficiency and Ornithine transcarbamylase deficiency

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74
Q

Which urea cycle is associated with a low orotic acid

A

carbomoyl phosphate synthetase

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75
Q

What is the acid base disturbance with urea cycle disorder

A

respiratory alkalosis

76
Q

ammonia level in urea cycle disorder

A

high high like greater than 1000

77
Q

Metabolic ketoacidosis +/- elevated ammonia with bone marrow depression and cardiomyopathy

A

propionic acidemia

78
Q

When does medium chain acyl CoA dehydrogenase deficiency present MCAD

A

around 2 years of age

79
Q

When you have MCAD deficiency, what will your urinary substances and ketones be?

A

no urinary reducing substances and no ketones

80
Q

Inheritance of fragile X

A

X linked

81
Q

Signs of fragile X

A

macrocephaly, low tone, hypotonia, developmental delays, joint hypermobility, large jaw, prominent ears, macro-orchidism

82
Q

What causes fragile X

A

tirnucleotide repeat in FMR1 gene on X chromosome

83
Q

Karyotype of klinefelters

A

47XXY

84
Q

dysmorphic features

A

bitemporal narrowing, almond shaped eyes

85
Q

Inheritance of HCM

A

autosomal dominant

86
Q

signs of klippel feil syndrome

A

fusion of more than 2 cervical vertebrae and hypoplastic scapula, double collecting system, horsehoe kidney, low hairline

87
Q

which cyanotic heart condition does not rely on PDA remaining open

A

TAPVR

88
Q

xray shows radiolucency with thin linear fragment of partially attached subchondral bone in the lateral portion medial femoral condyl

A

osteochondritis dissecans

89
Q

xray has bone lytic lesion that appears “moth eaten”

A

ewing sarcoma

90
Q

describe what a coloboma of the eye looks like

A

keyhole notch like defect affecting iris, ciliary body, retina, choroid and or optic nerve

91
Q

findings with hereditary spherocytosis

A

elevated serum bilirubin, jaundice, splenomegaly, gallstones

92
Q

SRY encodes for what

A

sex detemining region Y protein responsible for initiating male sex determination

93
Q

phenotypic female with 46XY, most likely gene that is defected is?

A

SRY

94
Q

what are the trinucleotide repeats of fragile X

A

CGG

95
Q

cat like cry mutation

A

5p deletion for cri du chat

96
Q

what are other signs of cri du chat syndroe

A

hypotonia, microcephaly, ID, cardiac defects

97
Q

Alagille syndrome

A

pulmonary stenosis, butterfly vertebrae, triangular shaped face, paucity of bile ducts

98
Q

mutation with alagille syndrome

A

20p12

99
Q

deletions associated with wilms tumor

A

11p13 PAX6 and WT1 genes

100
Q

What does WAGR syndrome stand for

A

wilms tumor, aniridia, GU malformations, reduced intellectual abilities

101
Q

is prader willi deletion of maternal or paternal cop of 15q11-13

A

paternal

102
Q

when does duchenne muscular dystophy present?

A

2-6 years of age

103
Q

duchene muscular dystrophy inheritance

A

x linked recessive

104
Q

Ghent criteria is used for what

A

used for marfan syndrome

105
Q

what are the criteria for marfan syndrome

A

ectopia lentis, aortic dilation or dissection, family history. need 2 of the above 3 for marfan syndrome

106
Q

what is aplasia cutis congenita

A

sharply marcated area on scalp without hair and tense membrane with scaley plaque

107
Q

what is mechanisms of error in patau syndrome trisomy 13

A

meiotic nondisjunction

108
Q

aplasia cutis congenita is associated with which trisomy

A

13

109
Q

what condition is associated with vascular injury to right umbilical vein or omphalomesenteric artery in fetus

A

gastroschisis

110
Q

which abdominal defect is not covered by a membrane

A

gastroschisis

111
Q

which umbilical defect is associated with other midline defects

A

omphalocele

112
Q

Inheritance of G6PD

A

x linked recessive. more common in males

113
Q

What is inheritance of chediak higashi syndrom

A

autosomal recessive

114
Q

what are characteristics of chediak higashi syndrome

A

abnomral melanin distribution with fair skin, light hair and light blue eyes.
dense body of platelets with defective granulocytes

115
Q

males with recurrent sinopulmonary infections, no tonsils or lymph nodes and absent IgG, IgA and IgM

A

x linked agammaglobulinemia

116
Q

ataxia, occulocutaneous telangiectasias and combined immunodeficiency

A

ataxia-telangiectasia

117
Q

inheritance kostmann syndrome

A

autosomal recessive HAX1 gene

118
Q

gene affected in rett syndrom

A

MECP2 on x chromosome

119
Q

small white-gray spots on periphery of iris

A

brushfield spots- trisomy21

120
Q

anterior wedging of thoracic vertebrae and schmorl nodes noted on xray

A

scheuermann disease- juvenile kyphosis

121
Q

most common TEF type

A

esophageal atresia and a distal TEF

122
Q

which two genetic conditions have: short stature, short webbed neck, low set posterior hairline, shield like chest with wide nipples, pectus excavatum, epicanthal folds, increased carrying angles of arms

A

noonan andturner

123
Q

Noonan syndrome affects what sex

A

both boys and girls

124
Q

heart defect in noonan syndrome

A

dysplastic pulmonary valve and pulmonary stenosis

125
Q

mutation with kallman syndrome

A

ANOS1 at Xp22.3

126
Q

mutation with noonan syndrome

A

deletion chromosome 12q

127
Q

inheritance of wiskott aldrich

A

x linked recessive

128
Q

signs of wiskott aldrich

A

atopic dermatitis, thrombocytopenia, recurrent infections with encapsulated bacteria

129
Q

Ig levels in wiskott aldrich

A

low IgM and increased IgA and IgE

130
Q

G6PD finding on peripheral smear

A

heinz bodies- inclusions in RBCs

131
Q

Gene mutation that causes NF2

A

Merlin on chromosome 22

132
Q

Findings of NF2

A

bilateral acoustic neuromas, retinal hamartomas, meningiomas, cranial and peripheral nerve schwannomas

133
Q

Gene mutation fo NF1

A

mutation for gene encoding neurofibromin on chromosome 17

134
Q

Findings in NF1

A

cafe au lait spots, axillary or inguinal freckling, lisch nodules in the iris, neurofibromas.

135
Q

pheochromocytoma, malignant peripheral nerve sheath tumor, AML, and optic gliomas are seen sometimes with what genetic syndrome

A

NF1

136
Q

LGA infant with omphalocele- what electolyte abnormality do you suspect

A

hypoglycemia (beckwith wiedemann)

137
Q

what gene is affected in beckwith wiedemann

A

IGF-2

138
Q

Triad of Mccune Albright Syndrome

A

precocious isosexual puberty, cafe au lait skin lesions, fibrous dysplasia of the bones unilaterally

139
Q

characteristics Fetal alcohol syndrome

A

short palpebral fissures, smooth and thin philtrum, thin vermilion border of upper lip, shortened nose associated with midface hypoplasia, maxillary hypoplasia, micrognathia, ptosis, epicanthal folds

140
Q

what seziure disorder is associated with tuberous sclerosis

A

infantile spasms

141
Q

inheritance of hemophilia A and B

A

x linked recessive= males affected more

142
Q

what factor deficiency is hemophilia a

A

8

143
Q

factor deficiency hemophilia B

A

9

144
Q

alacrima, achalasia and adrenal insufficiency is what disorder

A

Allgrove syndrome

145
Q

Werdnig Hoffman disease

A

SMA type 1

146
Q

what are mirror movements and what condition is associated with this

A

involuntary movements mirroring contralateral voluntary hand movement- kallman syndrome

147
Q

findings of x linked adrenoleukodystrophy

A

symptoms that mimic ADHD, difficulty concentrating, decreased academic performance and learning disabilities

148
Q

what builds up with x linked adrenoleukodystrophy

A

very long chain fatty acids

149
Q

deficiency of galactose 1 phosphate uridyltransferase causes what

A

galactosemia

150
Q

deficiency of beta-galactosidase

A

GM1 gangliosidosis- lysosomal storage disorder

151
Q

recurrent bacterial serious infections with encapsulated bacteria as an infant

A

X linked agammaglobulinemia

152
Q

cafe au lait spots, short stature, absent thumbs and renal anomalies

A

fanconi anemia

153
Q

oncologic risk of fanconi anemia

A

acute myelogenous leukemia

154
Q

type of anemia in diamond blackfan

A

macrocytosis

155
Q

nail patella syndrome characteristics

A

hypoplastic dysplastic nails, dislocation of patella, UA shows proteinuriaa

156
Q

triphalangeal thumbs

A

diamond blackfan anemia

157
Q

anemia in diamond blackfan

A

macrocytic RBC with reticulocytopenia. Otherwise normal bone marrow

158
Q

Findings of Hurlers Syndrome

A

coarse facial features, frequent URIs, macrocephaly, hernias and thickened heart valves

159
Q

young infant developmenting slowly with findings of thickened heart valves

A

Hurler

160
Q

Hepatomegaly, failure to thrive, evidence of rickets, no hypoglycemia

A

tyrosinemia

161
Q

what builds up in tyrosinemia

A

succinylacetone

162
Q

acylcarnitine profile diagnoses what

A

fatty acid oxidation disorders

163
Q

hypoglycemia without urinary reducing substances and no ketones

A

fatty acid oxidation

164
Q

hypoglycemia with urine ketones. no reducing substances

A

glycogen storage disease

165
Q

supplementing pyridoxime , you check what level for response?

A

homocystine

166
Q

physical exam findings with diamond blackfan anemia

A

webbed neck, triphalangeal thumbs, snubbed nose, hypertelorism and thick upper lip

167
Q

3 month old male starting to regress develops dystonia, choreoathitosis, hyperreflexia was diagnosed with CP. bites himeself and developmentally delayeD

A

lesch nyhan

168
Q

inheritance lesch nyhan

A

x linked recessive

169
Q

urate to creatinine ratio helps diagnose what

A

lesch nyhan

170
Q

“Greek warrior” helmet nose, high anterior hairline with prominent glabella, hypertelorism, epicanthus, high-arched eyebrows, downturned mouth, small jaw, and small ears with bilateral ear pits

A

4- deletion

wolf hirschhorn syndrome

171
Q

rockerbottom feet

A

trisomy 18

172
Q

quad screen in trisomy 21

A

elevated bHCG and elevate inhibin A

decreased AFP and Estriol

173
Q

quad screen in trisomy 18

A

everything is low

174
Q

quad screen abnormality for neural tube defect or gastroschisis

A

elevated AFP. all else is normal

175
Q

test to diagnose primary ciliary dyskinesia

A

exhaled nasal nitric oxide

176
Q

name the fatty acid oxidation disorders

A

carnintine palmitoyltrasnferase I and II deficiency, medium chain acyl CoA dehydrogenase def, short chain, very long chain

177
Q

mutation causing achondroplasia

A

fibroplast growth factor 3 FGRF3

178
Q

inheritance achondroplasia

A

autosomal dominant

179
Q

developmental disorder of achrondroplasia

A

gross motor

180
Q

infants with heterotaxy syndrome are at increased risk for what?

A

midgut volvulus or malrotation

181
Q

intellectual capability with Klinefelters

A

normal

182
Q

common extrarenal manifestaion ADPKD

A

cerebral aneurysm

183
Q

what enzyme is reduced in Hurler Syndrome

A

alpha L iduronidase

184
Q

what enzyme is reduced in Hunter Syndrome

A

iduronate sulfatase enzyme

185
Q

hepatosplenomegaly, bone pain and easy bruising and short stature

A

Gaucher disease

186
Q

factor deficiency in noonan

A

Factor 11.

bleeding and thrombocytopenia seen

ABP BOARDS (10 decks)

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