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Genetics Flashcards

0
Q

Patau syndrome

A

Trisomy 13

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1
Q

Most common recognizable cause of MR

A

Down syndrome

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2
Q

Patau syndrome findings

A

holoprosencephaly, polydactyly, cutis aplasia

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3
Q

Patau syndrome prognosis

A

< 20% beyond 1st year

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4
Q

Edward syndrome

A

Trisomy 18

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5
Q

Edward syndrome prognosis

A

< 10% survival beyond 1st year

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6
Q

Edward syndrome findings

A

Malformed ears, overlapping fingers, rocker-bottom feet, microcephaly w/ prominent occiput,

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7
Q

Turner syndrome findings

A

Short stature, short webbed neck, cubitus valgus, coarctation of the aorta, broad chest, widely apaces nipples, horseshoe kidney, ovarian dysgenesis

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8
Q

Turner syndrome genetics

A

45X (50%), structural abnormality of X (25%), mosaicism (25%)

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9
Q

Klinefelter syndrome findings

A

Tall, long limbs, female shape, scant facial/pubic hair, hypogonadism, small penis

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10
Q

Most common sex chromosome anomaly

A

Klinefelter syndrome

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11
Q

Klinefelter syndrome treatment

A

Testosterone replacement

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12
Q

Fragile X syndrome findings

A

Autism, MR, large ears, long narrow face, hyperextensible fingers, mitral valve prolapse, macro-orchidism

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13
Q

2nd most common cause of MR

A

Fragile X

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14
Q

Fragile X female carriers

A

1/3 with learning disability or mild MR

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15
Q

Prader-Willi syndrome findings

A

Neonatal hypotonia, almond shaped eyes, polyphagia, skin-picking behavior, MR

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16
Q

Prader-Willi syndrome genetics

A

Deletion at 15q11 (70%), uniparental disomy with loss of paternal allele (25%)

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17
Q

Angelman syndrome

A

Broad mouth, ataxia (puppet like gait), inappropriate laughter, absent speech

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18
Q

Angelman syndrome genetics

A

Deletions at 15q11 (70%), uniparental disomy with loss of maternal gene (7%)

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19
Q

Beckwith-Wiedemann syndrome

A

LGA, infantile hypoglycemia, macroglossia, earlobe creases, asymmetric limb length

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20
Q

Beckwith-Wiedemann syndrome complications

A

Increased risk for abdominal tumors (Wilms, heptoblastoma)

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21
Q

Beckwith-Wiedemann syndrome genetics

A

Methylation defects at 11p15

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22
Q

Williams syndrome complications

A

Supravalvular aortic stenosis, hypercalcemia, renal disease

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23
Q

Williams syndrome findings

A

Variable MR (IQ 50-90), cocktail party personality, elfin-like face, stellate irides, long philtrum, increased musical ability

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24
Q

Cri Du Chat syndrome findings

A

SGA, MR, high pitches cry, hypertelorism, epicanthal folds, profound speech impairment

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25
Q

Williams syndrome genetics

A

Sporadic - maternal UPD of ch 7 (10%), hypomethylation of 11p15

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26
Q

Cri Du Chat syndrome genetics

A

Sporadic 5p deletion

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27
Q

DiGeorge syndrome findings

A

Cardiac defects (esp. TOF), abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia

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28
Q

DiGeorge syndrome genetics

A

Sporadic 22q11 deletion

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29
Q

Smith-Magenis syndrome genetics

A

17p11 deletion

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30
Q

Malformation

A

Morphological defect resulting from an intrinsically abnormal developmental process (eg cleft lip, CHD)

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31
Q

Deformation

A

Abnormal form of a body part caused by mechanical forces (eg clubfoot)

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32
Q

Disruption

A

Destruction of a previously normally formed body part. Causes include amniotic bands and vascular disruption (eg gastroschisis)

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33
Q

Dysplasia

A

Abnormal organization of cells in a tissue (eg ectodermal dysplasia)

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34
Q

Sequence

A

Cascade effect resulting from a single embryonic event (eg Pierre-Robin, DiGeorge syndrome)

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35
Q

Achondroplasia genetics

A

AD

Fibroblast growth factor receptor 3

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36
Q

Achondroplasia complications

A

Neonatal hypotonia, apnea 2/2 tight foramen magnum, spinal cord compression

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37
Q

Marfan genetics

A

AD

Fibrillin

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38
Q

Marfan complications

A

Ectopia lentis, MVP, aortic root dilatation, joint instability, PTX

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39
Q

Ehlers-Danlos genetics

A

AD

Type III or I’VE collagen

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40
Q

Osteogenesis Imperfecta genetics

A

AD

Type I collagen

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41
Q

Osteogenesis Imperfecta findings

A

Dentinogenesis Imperfecta, blue sclera, hearing loss

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42
Q

Anhydrotic ectodermal dysplasia

A

XLR

Hypotrichosis, hypotonia, anhydrosis, mild MR

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43
Q

Holt-Oram syndrome genetics

A

AD

TBX5 gene

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44
Q

Holt-Oram syndrome findings

A

CHD (esp. ASD), absent thumb, radial hypoplasia

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45
Q

Most common lethal skeletal dysplasia

A

Thanatophoric dysplasia

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46
Q

Treacher-Collins syndrome genetics

A

AD

TCOF1 (treacle)

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47
Q

Treacher-Collins syndrome findings

A

Mandibular hypoplasia, ear anomalies, eyelid colobomata, cleft palate

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48
Q

Goldenhar syndrome cause

A

Stapediel artery disruption

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49
Q

Goldenhar syndrome findings

A

Hemifacial microsomia, macrostomia (larger mouth on affected side), colobomata

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50
Q

Russell-Silver syndrome findings

A

Growth retardation, macrocepahly, blue sclera, triangular face, hypoglycemia

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51
Q

Noonan syndrome genetics

A

AD

Mutation in PTPN11

52
Q

Noonan syndrome findings

A

Short stature, webbed neck, mild MR, broad chest, bleeding diathesis, cryptorchidism

53
Q

Noonan syndrome CHD

A

Pulmonic stenosis

54
Q

Cornelia de Lange syndrome findings

A

Growth retardation, carp mouth, low anterior hairline, upper limb anomalies, MR

55
Q

Rett syndrome genetics

A

XLD

MECP2 gene

56
Q

CHARGE association

A 
Coloboma
Heart anomalies
Choanal atresia
Retarded growth and development
Genital and ear anomalies
57
Q

VACTERL association

A 
Vertebral anomalies
Anal atresia 
Cardiac defects 
TEF
Renal anomalies 
Limb (esp. Radial) anomalies
58
Q

Fetal alcohol syndrome findings

A 
Microcephaly
Smooth philtrum
Thin upper lip
Hyperactivity
Hypertonic
Decreases IQ
Retrognathia 
Growth deficiency 
Eye anomalies (ptosis, strabismus)
Finger anomalies (nail hypoplasia)
59
Q

Klippel-Feil anomaly findings

A

Short webbed neck, cervical vertebral fusion, Sprengel deformity (upward displacement of scapula)

60
Q

Fetal Dilantin syndrome findings

A

Hypertelorism, flat nasal bridge, small distal phalanges and nails, DD

61
Q

Fetal DIlantin syndrome occurs in what % of exposed fetuses

63
Q

Cleft lip (w/ or w/o cleft palate) recurrence risk

A

General population: 0.1%
1 sibling: 3-7%
2 siblings: 8-14%
1 parent: 2-4%

64
Q

Most common recognizable form of MR

A

Down syndrome

65
Q

Most common amino acid disorder

66
Q

PKU findings

A

moderate/severe MR, autism, seizures, hypopigmentation, eczema

67
Q

PKU diagnosis

A

Quantitative phenylalanine (serum amino acid profile)

68
Q

Homocystinuria findings

A

Tall stature, scoliosis, osteoporosis, mild MR, ectopia lentis, hypercoagulability, stroke

69
Q

Homocystinuria defect

A

Cystathionine beta synthetase deficiency

70
Q

Galactosemia findings

A

Neonatal vomiting, jaundice, hepatic dysfunction, cataracts (during neonatal period), MR or DD, ovarian failure

71
Q

Galactosemia diagnosis

A

Galactose-1-phosphate uridyl-transferase (GALT) determination

72
Q

Most common fatty acid oxidation defect

A

Medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD)

73
Q

Fatty acid disorder diagnosis

A

Acylcarnitine profile

74
Q

Biotinidase deficiency findings

A

Hypotonia, seizures, rashes, alopecia

75
Q

Most common urea cycle defect

A

OTC deficiency

76
Q

OTC deficiency genetics

A

XLR (carrier females may be symptomatic)

77
Q

OTC deficiency findings

A

Hyperammonemia with CNS depression

78
Q

MELAS genetics

A

Mitochondrial inheritance (maternal)

79
Q

MELAS findings

A

mitochondrial Myopathy, Encephalopathy, Lactic acidosis, Stroke-like episodes (onset at 2-15 yo)

80
Q

Gaucher disease findings

A

Splenomegaly, thrombocytopenia, bone pain, mild to severe MR

81
Q

Gaucher disease defect

A

beta-glucosidase deficiency

82
Q

Tay-Sachs findings

A

Developmental regression, FTT, cherry red fovea, blindness, seizures

83
Q

Tay-Sachs defect

A

Hexosaminidase A

84
Q

Mucopolysaccharidoses

A 
Hurler
Scheie
Hunter
Sanfilippo
Morquio
85
Q

Hurler/Hunter findings

A

Developmental regression, organomegaly, coarse facies, corneal clouding (only Hurlers)

86
Q

Hurler/Hunter genetics

A

AR (Hurler) and XLR (Hunter)

87
Q

Adrenoleukodystrophy genetics

88
Q

Adrenoleukodystrophy findings

A

Developmental regression, visual loss, white matter changes, adrenal dysfunction (late)

89
Q

Adrenoleukodystrophy diagnosis

A

VLCFA profile and brain MRI

90
Q

Pierre Robin sequence “events” cascade

A

Retrognathia, glossoptosis, cleft palate, airway obstruction

91
Q

Citrullinemia

A

Argininosuccinate synthase (ASS)

92
Q

Urea cycle defect diagnosis

A

serum amino acids

93
Q

Causes of hyperammonemia

A

Organic acidemia (ketotic hypoglycemia), fatty acid oxidation defects (nonketotic hypoglycemia), pyruvate defect, liver failure

94
Q

Niemann-Pick enzyme deficiency

A

Sphingomyelinase

95
Q

Most common lysosomal storage disease

A

Gaucher’s disease

96
Q

Gaucher’s disease genetics

97
Q

Lesch-Nyhan genetics

98
Q

Lesch-Nyhan treatment

A

allopurinol (no impact on neurocognitive components)

99
Q

2nd most common trisomy

A

Edward syndrome (18)

100
Q

Hand-Schuller-Christian disease findings

A

lytic bone lesions (skull), exophthalmos, DI

101
Q

Laron syndrome findings

A

protruding forehead, saddle nose, short stature, hypoplasia of limbs/digits/nose

102
Q

Laron syndrome genetics

A

AR - GH receptor mutation –> low IGF1 response to GH

103
Q

Waardenburg syndrome findings

A

hearing loss, depigmentation, dystopia canthorum

104
Q

Zellweger syndrome genetics

A

AR - defect in peroxisome synthesis

105
Q

Zellweger syndrome findings

A

high forehead, epicanthal folds, leukodystrophy, cataracts, Brushfield spots

106
Q

Crouzon syndrome findings

A

low set ears, cranial synostosis, maxillary hypoplasia (choanal atresia)

107
Q

Crouzon syndrome genetics

108
Q

Apert syndrome findings

A

craniosynostosis, severe syndactyly

109
Q

Apert syndrome genetics

A

Associated with advanced paternal age

110
Q

Bloom syndrome findings

A

Growth retardation, telangiectasias, immunodeficiency

111
Q

Bloom syndrome genetics

112
Q

Costello syndrome AKA

A

faciocutaneoskeletal syndrome (FCS)

113
Q

Costello syndrome findings

A

large mouth, DD, hypermobility, extra skin folds on hands/feet, hypertrophic cardiomyopathy

114
Q

Denys-Drash syndrome findings

A

Wilm’s tumor, nephropathy, intersex d/o

115
Q

Kartagener syndrome findings

A

situs inversus, chronic sinusitis, bronchiectasis, poor sperm function, ectopic pregnancy

116
Q

Menkes disease genetics

117
Q

Menkes disease findings

A

neurological deterioration after 2-4 months, connective tissue abnormalities

118
Q

Achondroplasia genetics

A

AD (sporadic in 75%), associated with increased paternal age

119
Q

Osler-Weber-Rendu syndrome AKA

A

hereditary hemorrhagic telangiectasia

120
Q

Peutz-Jeghers genetics

121
Q

Peutz-Jeghers findings

A

mucocutaneous pigmented macules, GI and extra-intestinal polyps

122
Q

Infection in galatosemia

A

E. coli sepsis

123
Q

Waardenburg syndrome

A

lateral displacement of medial acanthi, albinism, deafness, wide nasal root (no MR!)

124
Q

Waardenburg genetics

125
Q

Hereditary fructose intolerance presentation

A

hypoglycemia with fructose ingestion

126
Q

Vascular complication of NF

A

renal artery stenosis

127
Q

Imaging of TS

A

polycystic kidney, subependymal calcified tubers

128
Q

Cyanide nitroprusside test

A

differentiate Marfan’s from homocystinuria

129
Q

Diagnosis of mucopolysaccharidoses

A

urine glycosaminoglycans

Pediatrics (14 decks)

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