Genetics Flashcards
(129 cards)
0
Q
Patau syndrome
A
Trisomy 13
1
Q
Most common recognizable cause of MR
A
Down syndrome
2
Q
Patau syndrome findings
A
holoprosencephaly, polydactyly, cutis aplasia
3
Q
Patau syndrome prognosis
A
< 20% beyond 1st year
4
Q
Edward syndrome
A
Trisomy 18
5
Q
Edward syndrome prognosis
A
< 10% survival beyond 1st year
6
Q
Edward syndrome findings
A
Malformed ears, overlapping fingers, rocker-bottom feet, microcephaly w/ prominent occiput,
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
8
Q
Turner syndrome genetics
A
45X (50%), structural abnormality of X (25%), mosaicism (25%)
9
Q
Klinefelter syndrome findings
A
Tall, long limbs, female shape, scant facial/pubic hair, hypogonadism, small penis
10
Q
Most common sex chromosome anomaly
A
Klinefelter syndrome
11
Q
Klinefelter syndrome treatment
A
Testosterone replacement
12
Q
Fragile X syndrome findings
A
Autism, MR, large ears, long narrow face, hyperextensible fingers, mitral valve prolapse, macro-orchidism
13
Q
2nd most common cause of MR
A
Fragile X
14
Q
Fragile X female carriers
A
1/3 with learning disability or mild MR
15
Q
Prader-Willi syndrome findings
A
Neonatal hypotonia, almond shaped eyes, polyphagia, skin-picking behavior, MR
16
Q
Prader-Willi syndrome genetics
A
Deletion at 15q11 (70%), uniparental disomy with loss of paternal allele (25%)
17
Q
Angelman syndrome
A
Broad mouth, ataxia (puppet like gait), inappropriate laughter, absent speech
18
Q
Angelman syndrome genetics
A
Deletions at 15q11 (70%), uniparental disomy with loss of maternal gene (7%)
19
Q
Beckwith-Wiedemann syndrome
A
LGA, infantile hypoglycemia, macroglossia, earlobe creases, asymmetric limb length
20
Q
Beckwith-Wiedemann syndrome complications
A
Increased risk for abdominal tumors (Wilms, heptoblastoma)
21
Q
Beckwith-Wiedemann syndrome genetics
A
Methylation defects at 11p15
22
Q
Williams syndrome complications
A
Supravalvular aortic stenosis, hypercalcemia, renal disease
23
Q
Williams syndrome findings
A
Variable MR (IQ 50-90), cocktail party personality, elfin-like face, stellate irides, long philtrum, increased musical ability
24
Cri Du Chat syndrome findings
SGA, MR, high pitches cry, hypertelorism, epicanthal folds, profound speech impairment
25
Williams syndrome genetics
Sporadic - maternal UPD of ch 7 (10%), hypomethylation of 11p15
26
Cri Du Chat syndrome genetics
Sporadic 5p deletion
27
DiGeorge syndrome findings
Cardiac defects (esp. TOF), abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia
28
DiGeorge syndrome genetics
Sporadic 22q11 deletion
29
Smith-Magenis syndrome genetics
17p11 deletion
30
Malformation
Morphological defect resulting from an intrinsically abnormal developmental process (eg cleft lip, CHD)
31
Deformation
Abnormal form of a body part caused by mechanical forces (eg clubfoot)
32
Disruption
Destruction of a previously normally formed body part. Causes include amniotic bands and vascular disruption (eg gastroschisis)
33
Dysplasia
Abnormal organization of cells in a tissue (eg ectodermal dysplasia)
34
Sequence
Cascade effect resulting from a single embryonic event (eg Pierre-Robin, DiGeorge syndrome)
35
Achondroplasia genetics
AD
| Fibroblast growth factor receptor 3
36
Achondroplasia complications
Neonatal hypotonia, apnea 2/2 tight foramen magnum, spinal cord compression
37
Marfan genetics
AD
| Fibrillin
38
Marfan complications
Ectopia lentis, MVP, aortic root dilatation, joint instability, PTX
39
Ehlers-Danlos genetics
AD
| Type III or I'VE collagen
40
Osteogenesis Imperfecta genetics
AD
| Type I collagen
41
Osteogenesis Imperfecta findings
Dentinogenesis Imperfecta, blue sclera, hearing loss
42
Anhydrotic ectodermal dysplasia
XLR
| Hypotrichosis, hypotonia, anhydrosis, mild MR
43
Holt-Oram syndrome genetics
AD
| TBX5 gene
44
Holt-Oram syndrome findings
CHD (esp. ASD), absent thumb, radial hypoplasia
45
Most common lethal skeletal dysplasia
Thanatophoric dysplasia
46
Treacher-Collins syndrome genetics
AD
| TCOF1 (treacle)
47
Treacher-Collins syndrome findings
Mandibular hypoplasia, ear anomalies, eyelid colobomata, cleft palate
48
Goldenhar syndrome cause
Stapediel artery disruption
49
Goldenhar syndrome findings
Hemifacial microsomia, macrostomia (larger mouth on affected side), colobomata
50
Russell-Silver syndrome findings
Growth retardation, macrocepahly, blue sclera, triangular face, hypoglycemia
51
Noonan syndrome genetics
AD
| Mutation in PTPN11
52
Noonan syndrome findings
Short stature, webbed neck, mild MR, broad chest, bleeding diathesis, cryptorchidism
53
Noonan syndrome CHD
Pulmonic stenosis
54
Cornelia de Lange syndrome findings
Growth retardation, carp mouth, low anterior hairline, upper limb anomalies, MR
55
Rett syndrome genetics
XLD
| MECP2 gene
56
CHARGE association
```
Coloboma
Heart anomalies
Choanal atresia
Retarded growth and development
Genital and ear anomalies
```
57
VACTERL association
```
Vertebral anomalies
Anal atresia
Cardiac defects
TEF
Renal anomalies
Limb (esp. Radial) anomalies
```
58
Fetal alcohol syndrome findings
```
Microcephaly
Smooth philtrum
Thin upper lip
Hyperactivity
Hypertonic
Decreases IQ
Retrognathia
Growth deficiency
Eye anomalies (ptosis, strabismus)
Finger anomalies (nail hypoplasia)
```
59
Klippel-Feil anomaly findings
Short webbed neck, cervical vertebral fusion, Sprengel deformity (upward displacement of scapula)
60
Fetal Dilantin syndrome findings
Hypertelorism, flat nasal bridge, small distal phalanges and nails, DD
61
Fetal DIlantin syndrome occurs in what % of exposed fetuses
10%
63
Cleft lip (w/ or w/o cleft palate) recurrence risk
General population: 0.1%
1 sibling: 3-7%
2 siblings: 8-14%
1 parent: 2-4%
64
Most common recognizable form of MR
Down syndrome
65
Most common amino acid disorder
PKU
66
PKU findings
moderate/severe MR, autism, seizures, hypopigmentation, eczema
67
PKU diagnosis
Quantitative phenylalanine (serum amino acid profile)
68
Homocystinuria findings
Tall stature, scoliosis, osteoporosis, mild MR, ectopia lentis, hypercoagulability, stroke
69
Homocystinuria defect
Cystathionine beta synthetase deficiency
70
Galactosemia findings
Neonatal vomiting, jaundice, hepatic dysfunction, cataracts (during neonatal period), MR or DD, ovarian failure
71
Galactosemia diagnosis
Galactose-1-phosphate uridyl-transferase (GALT) determination
72
Most common fatty acid oxidation defect
Medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD)
73
Fatty acid disorder diagnosis
Acylcarnitine profile
74
Biotinidase deficiency findings
Hypotonia, seizures, rashes, alopecia
75
Most common urea cycle defect
OTC deficiency
76
OTC deficiency genetics
XLR (carrier females may be symptomatic)
77
OTC deficiency findings
Hyperammonemia with CNS depression
78
MELAS genetics
Mitochondrial inheritance (maternal)
79
MELAS findings
mitochondrial Myopathy, Encephalopathy, Lactic acidosis, Stroke-like episodes (onset at 2-15 yo)
80
Gaucher disease findings
Splenomegaly, thrombocytopenia, bone pain, mild to severe MR
81
Gaucher disease defect
beta-glucosidase deficiency
82
Tay-Sachs findings
Developmental regression, FTT, cherry red fovea, blindness, seizures
83
Tay-Sachs defect
Hexosaminidase A
84
Mucopolysaccharidoses
```
Hurler
Scheie
Hunter
Sanfilippo
Morquio
```
85
Hurler/Hunter findings
Developmental regression, organomegaly, coarse facies, corneal clouding (only Hurlers)
86
Hurler/Hunter genetics
AR (Hurler) and XLR (Hunter)
87
Adrenoleukodystrophy genetics
XLR
88
Adrenoleukodystrophy findings
Developmental regression, visual loss, white matter changes, adrenal dysfunction (late)
89
Adrenoleukodystrophy diagnosis
VLCFA profile and brain MRI
90
Pierre Robin sequence "events" cascade
Retrognathia, glossoptosis, cleft palate, airway obstruction
91
Citrullinemia
Argininosuccinate synthase (ASS)
92
Urea cycle defect diagnosis
serum amino acids
93
Causes of hyperammonemia
Organic acidemia (ketotic hypoglycemia), fatty acid oxidation defects (nonketotic hypoglycemia), pyruvate defect, liver failure
94
Niemann-Pick enzyme deficiency
Sphingomyelinase
95
Most common lysosomal storage disease
Gaucher's disease
96
Gaucher's disease genetics
AR
97
Lesch-Nyhan genetics
X-linked
98
Lesch-Nyhan treatment
allopurinol (no impact on neurocognitive components)
99
2nd most common trisomy
Edward syndrome (18)
100
Hand-Schuller-Christian disease findings
lytic bone lesions (skull), exophthalmos, DI
101
Laron syndrome findings
protruding forehead, saddle nose, short stature, hypoplasia of limbs/digits/nose
102
Laron syndrome genetics
AR - GH receptor mutation --> low IGF1 response to GH
103
Waardenburg syndrome findings
hearing loss, depigmentation, dystopia canthorum
104
Zellweger syndrome genetics
AR - defect in peroxisome synthesis
105
Zellweger syndrome findings
high forehead, epicanthal folds, leukodystrophy, cataracts, Brushfield spots
106
Crouzon syndrome findings
low set ears, cranial synostosis, maxillary hypoplasia (choanal atresia)
107
Crouzon syndrome genetics
AD
108
Apert syndrome findings
craniosynostosis, severe syndactyly
109
Apert syndrome genetics
Associated with advanced paternal age
110
Bloom syndrome findings
Growth retardation, telangiectasias, immunodeficiency
111
Bloom syndrome genetics
AR
112
Costello syndrome AKA
faciocutaneoskeletal syndrome (FCS)
113
Costello syndrome findings
large mouth, DD, hypermobility, extra skin folds on hands/feet, hypertrophic cardiomyopathy
114
Denys-Drash syndrome findings
Wilm's tumor, nephropathy, intersex d/o
115
Kartagener syndrome findings
situs inversus, chronic sinusitis, bronchiectasis, poor sperm function, ectopic pregnancy
116
Menkes disease genetics
AR
117
Menkes disease findings
neurological deterioration after 2-4 months, connective tissue abnormalities
118
Achondroplasia genetics
AD (sporadic in 75%), associated with increased paternal age
119
Osler-Weber-Rendu syndrome AKA
hereditary hemorrhagic telangiectasia
120
Peutz-Jeghers genetics
AD
121
Peutz-Jeghers findings
mucocutaneous pigmented macules, GI and extra-intestinal polyps
122
Infection in galatosemia
E. coli sepsis
123
Waardenburg syndrome
lateral displacement of medial acanthi, albinism, deafness, wide nasal root (no MR!)
124
Waardenburg genetics
AD
125
Hereditary fructose intolerance presentation
hypoglycemia with fructose ingestion
126
Vascular complication of NF
renal artery stenosis
127
Imaging of TS
polycystic kidney, subependymal calcified tubers
128
Cyanide nitroprusside test
differentiate Marfan's from homocystinuria
129
Diagnosis of mucopolysaccharidoses
urine glycosaminoglycans
