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Genetics Flashcards

1
Q

Pattern: Lens dislocation upward

A

Marfan

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2
Q

Pattern: Lens dislocation downward

A

Homocystinuria

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3
Q

Cardiac problems assoc with Marfan

A

aortic root dilation, aortic rupture, mitral valve prolapse

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4
Q
  • Fibrillin on chromosome 15
A

Marfan

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5
Q
  • TFBR1/2
A

Marfan 2 and Loeys-Dietz

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6
Q

NF criteria: 2/7

A
  1. > 6 cafe au lait >5mm prepub, >15mm prepub
  2. 2+ neurofibromas
  3. 2+ lisch nodules of iris
  4. OPG
  5. inguinal or axillary freckling
  6. sphenoid wing dysplasia or thinning of long bone cortex
  7. 1st degree relative with NR
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7
Q

Pattern: coarse facies, corneal clouding, organomegaly, cogntive loss

A

Hurler features

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8
Q
  • alpha-1 iduronidase
A

Hurler genetics

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9
Q

Muscle weakness and progression pattern of DMD

A

symmetric proximal symmetric myopathy, symptoms prior to 5, can’t walk by 13

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10
Q

Majority of DMD mutation

A

deletion and point mutations

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11
Q

Pattern: coarse facies, hump on back, short stature, cognitive loss, gibbus organomegaly, clear cornea

A

Features of Hunter

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12
Q

Phenotype of x-linked dominant

A

Rett - girls only because boys die

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13
Q

IHP of Hunter

A

x-linked recessive

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14
Q

Gene mutation in MELAS

A

tRNA genes

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15
Q

Genetic mutation type in myotonic dystrophy

A

trinucleotide repeats

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16
Q

Genetic mutation type in Fragile X

A

trinucleotide repeats

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17
Q

Pattern: puffy hands and feet in baby

A

Turner

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18
Q

Pattern: horseshoe/ectopic kidney, hearing loss, hypothyroidism

A

Turner

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19
Q

Hormonal abnormality of Turner

A

hypothydroidism

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20
Q

Congenital heart disease in Turner

A

Coarctation, bicuspid aortic valve, hypoplastic left heart

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21
Q

Late onset heart disease in Turner syndrome

A

aortic dissection (increased during pregnancy), HTN

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22
Q

Genetics of Wolf-Hirschhorn syndrome

A

4p deletion

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23
Q

Pattern: severe retardation, cleft lip/palate, FTT CHD, microcephaly, flat nasal bridge with high arched eyebrows

A

Wolf-Hirschorn

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24
Q

Cri du chat syndrome

A

5p delection

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25
Q

Pattern: low birth weight, ID, epicanthal folds, CHD, 5p-

A

Cri du chat

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26
Q

Pattern: Full lips, smooth philtrum, stellate iris, puffy eyes, bitemproal narrowing, elfin facies, cocktail party, hypercalcemia, supravalvular aortic stenosis, developmental delay

A

Williams

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27
Q

Genetic deletion in Williams

A

7q11.23

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28
Q

Pattern: bulbous nose, congenital, thymus hypoplasia, cleft palate, hypocalcemia

A

22q11.2 - DiGeorge

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29
Q

Pattern: hirsuitism, unibrow (synophyrs), limb anomalies, microcephaly, oligodactyly,

A

Cornelia de Lange

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30
Q

Genetics of Cornelia de Lange

A

NIPBL, 5p13

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31
Q

Pattern: small mandible, malar hypoplasia, down slanting palpebral fissures, malformed ears with hearing loss, lower eyelid coloboma

A

Treacher collins syndrome

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32
Q

Genetics of Treacher Collins syndrome

A

5q32, treacle

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33
Q

What skin/musculoskeletal finding with fragile X

A

flat feet, loose joins, soft smooth skin

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34
Q

what cardiac condition

A

Mitral valve prolapse

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35
Q

What GU problem associated with Fragile X

A

Macro-orchidism

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36
Q

neuro issue with fragile x syndrome

A

neuronal migration defects

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37
Q

Lay out plan for eval of pt with Fragile X

A

Echo - MVP
Vision - strabismus
Eval for loose joints and possible seizures

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38
Q

Adult female/male with pre-mutation of FRM1 CGG repeat will have what symptoms

A

Female - premature ovarian function

Male - tremors

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39
Q

Pattern: neonatal hypotonia, poor feeding, FTT, DD, almond shaped yes, small hands and feet, obesity and feeding problem, microfallus

A

Prader-Willi syndrome

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40
Q

Genetics of Prader-Willi syndrome

A

Paternal 15q deletion
Uniparental disomy chromosome 15
Mutation in imprinting gene

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41
Q

Genetics of Angelman syndrome

A

Deletion of maternal chromosome 15, paternal uniparental disomy, imprinting gene mutation

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42
Q

Pattern: brushfield spots

A

T21

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43
Q

Endocrine and GI problems in T21

A

hypoTH, duodenal atresia

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44
Q

What other variant of genetics can be seen in T21?

A

Robertsonian translocation in 5%

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45
Q

Pattern: Thin upper lip, philtrum, ID, microcephaly, down-slanting palpebral fissures

A

FAS

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46
Q

Pattern: Microfallus, hypotonia, depressed nose bridge, fusion of 2/3 toe (syndactylyl), undescended testes

A

Smith-Lemli-Opitz

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47
Q
  • in Smith-Lemli-Opitz
A
  • delta-7-sterol reductase, cholesterol biosynthesis
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48
Q

Pattern: low serum cholesterol level, elevated 7-dehydrocholeterol

A

Smith-lemli-opitz

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49
Q

Rx for Smith-Lemli-Opitz

A

diet high in cholesterol, which only improves condition

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50
Q

Dx associated with conotruncal heart defect such as transposition, TOF, interrupted aortic arch, truncus arteriosus

A

22q deletion syndrome

DiGeorge or velocardiofacial syndromes

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51
Q

Dx supervalvular aortic stenosis

A

Williams

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52
Q

Dx AV canal

A

Down

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53
Q

Dx pulmonary valve stenosis, HOCM

A

Noonan

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54
Q

Dx coarctation of aorta

A

Turner

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55
Q

Pattern: short stature, ptosis, broad or webbed neck, heart defect, shield chest, developmental delay

A

Noonan

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56
Q

Dx dilated aortic root

A

marfan

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57
Q

Pattern: growth deficiency, microcephaly, prominent occiput, small mouth/small jaw, short sternum, cardiac anomalies, cryptorchidism, rocker bottom feet, hypoplastic nails,

A

Tri18

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58
Q

Pattern: microcephaly, holoprosencephaly, low birth weight, scalp ulceration, iris coloboma, cardiac anomalies, renal and genital anomalies, cleft lip and palate, polydacyly, rocker bottom feet

A

Tri13

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59
Q

Pattern: wormian bones, bowing of the long bones, small chest bones, blue sclera

A

Osteogenic imperfect type 2

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60
Q
  • OI type 2
A

AD mutation in COL1A1 and COL1A2

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61
Q

Cause of mortality in OI type 2

A

inability to ventilate, intracranial hemorrhage

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62
Q

Pattern: triangular head, most common neonatal skeletal dysplasia, cloverleaf skull, short limb dwarfism, severe brain malformations, mutations in FGFR3

A

thanatophoric dysplasia

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63
Q

Pattern: short stature, extra fold in proximal limbs, chest triangle, frontal bossing, trident hand, small foramen magnum

A

achondroplasia

* mutation in FGFR3 AD

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64
Q

Complications of achondroplasia

A

increased risk for SIDS, small foramen magnum-risk of hydrocephalus or c-spine injury, small thorax-risk for pneumonia

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65
Q

Pattern: long fingers, lens dislocation, myopia, high arched palate

66
Q

Management of Marfan

A

Annual ECHO, ACE inhibitors to prevent aortic dilation, ophthalmologic exam, rule out homocystinuria

67
Q
  • for craniosynostosis
A

FGFR1, FGFR2, FGFR3, TWIST, MSX1

68
Q

Syndromes most commonly associated with craniosynostosis

A

Pfieffer, Cruzon, Apert

69
Q

Management of craiosynostosis

A

Referral to craniofacial team, early referral to ophtho, make sure airway isn’t compromised from small midface

70
Q

small mandible –> cleft palate –> glossoptosis

A

Pierre-Robin sequence

71
Q

Small mandible –> cleft palate –> glossoptosis + retinal detachment, myopic, and hearing loss

A

Pierre-Robin syndrome - Stickler syndrome

72
Q

Pattern: omaphalocele, crease or pits in ear lobe, large size, neonatal hypoglycemia, macroglossia, umbilical hernia

A

Beckwith-Wiedemann syndrome

73
Q

What tumors do Beckwith-Wiedemann syndrome

A

Wilms, adrenal cortical carcinoma, hepatoblastoma

74
Q

Pattern: aniridia and intellectual disability, Wilms tumor, gonadoblastoma

A

Aniridia-WAGR syndrome

75
Q

Mutation in WAGR-syndrome

A

Deletion chromosome 11p13

76
Q

Tumor associated with hemihyperplasia

A

Wilms, adrenal cortical carcinoma, hepatoblastoma

77
Q

Management for Beckwith-Wiedemann syndrome, hemihyperplasia, or WAGR

A

q3 month abdominal US for kidney, adrenals, and liver until age 8, q3 alphafetoprotein until age 4

78
Q

Evaluation for infant with hearing loss

A

Audiology, ENT (outer or inner ear), genetics, TORCH testing (CMV), ophtho, EKG (conduction problem)

79
Q

Pattern: hyperextensibility, atrophic scars, delayed walking

A

Hypermobile Ehlers Danlos Syndrome

80
Q

Pattern: hypermobile, spontaneous gut rupture, aneurysm, wound dehicience

A

Ehlers Danlos Syndrome

81
Q

What syndromes have radial ray anomalies

A

TAR, Diamond blackfan anemia, fanconi anemia, holt-oram syndrome, VATER/VACTERL

82
Q

What evaluation do you for child with radial ray anomalies

A

chromosome breakage studies

83
Q

Pattern: absent clavicles, delayed closure of the fontanelle, skeletal dysplasia

A

cleidocranial dysostosis

84
Q

Testing for kids suspected of Autism

A

Fragile X syndrome, microarray

85
Q

mutations associated with Autism

A

16p11.2 deletion and 15q11-q13 duplication

86
Q

X-linked genes associated with autism

A

Neuroligins NLGN3, NLGN4

87
Q

Test for FA oxidation dx

A

plasma acylcarnitines

88
Q

Test for peroxisomal dx

89
Q

Test for mucopolysaccharidoses

A

urine glycosaminoglycan

90
Q

Pattern: fine first few days of life, then lethargy, tachypnea in the latter half of first week of life

A

Urea cycle deficit

91
Q

Pattern: hyperammonemia and alkalosis

A

urea cycle disorder

92
Q

Pattern: hyperammonemia and acidosis

A

organic acidemias

93
Q

Pattern: hyperammonemia, ketosis, neutropenia, hyperammonemia

A

organic acidemias

94
Q

Test for organic acidemias

A

urine organic acids

95
Q

Pattern: hyperammonemia and hypoglycemia

A

FA oxidation dx

96
Q

Pattern: hyperammonemia and normal anion gap (3-11),

A

urea cycle disorder

97
Q

Pattern: hyperammonemia and high anion gap >11

A

organic acid disorder

98
Q

Management of hyperammonemia

A

Administer calories to prevent catabolism, D10 with insulin, urea cycle scavengers (sodium benzoate, phenybutyrate bypass the urea cycle, dialysis in severe cases (>500mmol/L)

99
Q

Pattern: infant male, low BUN, high urine orotic acid, abnormal plasma aa (low citruliine)

100
Q

Rx for urea cycle disorders

A

dialysis, scavengers (by pass the urea cycle), blude. long-term treatment insluced protein restriction, special formula and outpt scavenger therapy

101
Q

Name 3 most common organic acidurias

A

isolveric, methmalonic, proprionic

102
Q

Pattern: acidosis, hyperammonemia, pancytopenia, ketosis, MR

A

organic acidurias

103
Q

Pattern: sweaty sock smell

A

isovaleric

104
Q

May confused with cobalamin deficieincy

A

methylmalonic acidemia

105
Q

Biotin is a cofactor for this catabolism

A

Proprionic acidemia

106
Q

Ketotic hypoglycemia + increased lactate

A

glycogen storage disease type 1

107
Q

Ketotic hypoglycemia + normal lactate

A

other than GSD1, ketotic hypoglycemia itself or endocrine problems

108
Q

Ketotic hypoglycemia + hepatomegaly, increased lactate

A

hereditary fructose intolerance

109
Q

Ketotic hypoglycemia + reducing substances, liver disease and E. coli sepsis

A

galactosemia

110
Q

Nonketotic hypoglycemia + presents after fasting

111
Q

Nonketotic hypoglycemia + hypoglycemia even when feeding normally

A

hyperinsulinism

112
Q

Nonketotic hypoglycemia + large macroglossia, umbilical hernia

A

Beckwith Wiedemann syndrome

113
Q

Pattern: hepatomegaly, hypoglycemia, cherubic or doll-like facies, growth impairment

A

Hepatic type glycogen storage

114
Q

Rx for hepatic type glycogen storage

A

cornstarch, nocturnal enteral feeding, liver transplant

115
Q

Pattern: renal disease, bleeding diathesis, lactic acidosis, hyperuricemia, hypertriglyceridemia

A

Von Gierke glucose 6-phosphatase

116
Q

Pattern: renal disease, bleeding diathesis, lactic acidosis, hyperuricemia, hypertriglyceridemia, mucosal ulcerations (oral, intestinal, vaginal), and neutropenia

A

Glycogen storage Ib glucose 6-phosphate transporter

117
Q

Pattern: hypoglycemia, skeletal myopathy, cardiomyopathy, hyperlipidemia, elevated transaminases

A

Glycogen storage III cori /Forbes

118
Q

Pattern: hypoglycemia, severe FTT, progressive cirrhosis

119
Q

Pattern: muscle pain and cramping, exercise intolerance, progressive weakness, rhabdomyolysis, no lactate with exercise

120
Q

Pattern: like McArcle, but earlier onset and more severe, compensated hemolytic anemia, exercise intolerance worse after high carb meal

A

Muscle type glycogen storage Tarui VII

121
Q

Pattern: hypoketotic hypoglycemia, liver disease, and mild hyperammonemia, may cause sudden death

122
Q

Pattern: Hypoketotic hypoglycemia, liver disease, sudden death, cardiomyopathy, rhabdomyolysis, retinopathy

A

LCFA dehydrogenase

123
Q

Rx for FAOD

A

fasting avoidance, low fat diet, MCT for LCD, but not for MCAD

124
Q

Pattern: E. coli sepsis in 7 day old, irritable, lethargic, jaundiced, hypoglycemia, and hepatomegaly, cataracts

A

Galactosemia

125
Q

Dx for galactosemia

A

decrease in GALT activity, increase in galactose 1-phosphate levels

126
Q

Pattern: hepatomegaly, jaundice, hepatic failure, hypoglycemia, hypophosphatemia, lactic acidosis

A

hereditary fructose intolerance (fructose 1-phosphate aldolase deficiency)

127
Q

Pattern: liver failure, coagulopathy, jaundice, renal tubular acidosis, cabbage-like odor

A

tyrosinemia type 1

128
Q

Pattern: corneal dystrophy, erosions and ketosis of palms and soles, MR

A

Tyrosinemia type II, oculocutaneous

129
Q

Hyperammonemia + acidosis + ketosis

A

organic acidemia

130
Q

Hypoglycemia + acidosis - ketosis

A

Fatty acid oxidative disorder

131
Q

Hypoglycemia + ketosis + lactic acidosis

A

GSD or Hereditary fructose intolerance

132
Q

Very high lactate without hypoxia or other causes

A

mito, pyruvate dehydrogenase deficiency

133
Q

Pattern: early macrocephaly and subtle neuro signs, after viral infection has basal ganglia stroke and MR and movement disorder; retinal or subdural hemorrhages and mistaken for child abuse

A

Glutaric academia type 1

134
Q

Pattern; acidosis and metabolic decompensation, severe ID, rash and alopecia

A

biotinidase deficiency, organic acidemia

135
Q

Pattern: ketosis, possible hypoglycemia, no hyperammonemia or acidosis, poor feeding, apnea, lots of leucine, seizures, death, ataxia or DD

136
Q

Rx for MSUD

A

thiamine, dialysis to remove leucine, protein restriction

137
Q

Pattern: abnormal startle, cherry red spot, decrased attentiveness at 3 to 6 months, progressive neuro decline

138
Q

Pattern: Bone and CNS, osteopenia, osteonecrosis, fractures, hepatosplenomegaly, anemia, thrombocytopenia, coagulopathy, pulmonary disease, CNS involvement, swallowing difficulty, nystagmus, seizures

139
Q

Dx for Gaucher

A

Leukocyte active, gaucher cells (macrophages)

140
Q

Pattern: Angiokeratosis, pain crisis in distal extremities, left ventricular hypertrophy, and cardiomyopathy, strokes, proteinuria, and renal disease

A

X-linked disease

141
Q

alpha-galactosidase A

142
Q

Glucocerebrosidase deficiency

143
Q

Leucine toxicity

144
Q

Abnormal lysine and tryptophan

A

glutaric academia type 1

145
Q

alpha-glucosidase

146
Q

Pattern: infant with feeding problems, severe weakness, cardiomyopathy, early death

147
Q

Pattern: child with muscle weakness progressing to resp failure in several years

148
Q

Alpha L-iduronidase

149
Q

Pattern: early onset, corneal clouding, die first 10 years

150
Q

Pattern: course facies, no corneal clouding

151
Q

Iduronate sulfatase x-linked

152
Q

Pattern: course facies, brain problems > bone

A

San Fillipo

153
Q

Pattern: course facies, skeletal dysplasia

154
Q

Pattern: course facies, normal intelligence, short, joint problems

A

Maroteaux-Lamy

155
Q

Pattern: long slender figures, long limbs, pectus, lens go down, thrombosis, strokes

A

Homocystinuria

156
Q

Pattern: hypotonia, seizures, liver dysfunction, triangular head

157
Q

Pattern: microcephaly, broad nasal tip, cataracts, 2-3 toe syndactyly, polydactyly, cleft palate, CHD, autism, MR

A

Smith-lemli-optiz

158
Q

Urine glcyosaminoglycans

A

mucopolysaccharidoses

159
Q

Plasma acylcarnitine

A

fatty acid oxidation disorders

160
Q

Organic acid disorders

A

urine orgnanic acids

161
Q

Components of newborn screening

A

PKU, galactosemia, hypoth, SCD, biotin, hemoglobinopathies, amino acidopathies, organic acidurias, FA osication

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