Genetics Flashcards
0
Q
short 4th 5th metacarpals, pedal edema, poor breast development
A
Turner
1
Q
types of heart issues in Turner syndrome (2)
A
bicuspid aortic valve, coarct aorta
2
Q
frequency of Turner
A
1:2500
3
Q
most common chromosomal defect in spontaneous abortions?
A
45 XO, Turner
4
Q
kidney issue in Turner
A
horseshoe kidney
5
Q
Course curly hair, blue-green irides, low posterior hairline, low set ears, triangular faces, cryptoorchidism?
A
Noonan
6
Q
Heart issues in Noonan? (2)
A
Pulm valve stenosis, Hypertrophic cardiomyopathy
7
Q
Karyotype in Noonan?
A
normal
8
Q
chromosome for Cri Du Chat?
A
5
9
Q
craniosynostosis and syndactyly, choanal atresia, cervical spine fusion issues
A
Apert syndrome
10
Q
ataxia, partial seizures, liver disease
A
Alpers syndrome (vs alpert, alporot)
11
Q
renal disease, sensorineural hearing loss, cataracts
A
AlPORT
12
Q
mutations causing Apert syndrome and what is it
A
premature fusion syndrome: choanal stenosis/atresia, craniosynostosis, syndactyly, ID
FGFR2 gene, chromosome 10
13
Q
Cockayne syndrome skin issue?
A
light sensitive
14
Q
Chromosome 11 associations (3)
A
Wilms
aniridia
Beckwith Weidemann
15
Q
early aging syndrome w/o eye, photosensitivity
A
progeria
16
Q
syndrome causing loss of minerals in urine, failure to thrive, rickets
A
Fanconi syndrome (not the anemia)
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)
18
Q
Crouzon vs Apert?
A
Both craniofacial synostosis issues, Crouzon with orbit issue and more brain issue, hearing issue.
19
Q
Freq of klinefelter?
A
1:800
20
Q
most common sex chromosome abnormality?
A
XXY
21
Q
size of testes in XXy
A
small
22
Q
dev profile in XXY
A
expressive language delay, mild motor, social awkward
23
Q
tall, gynecomastia and risk for BRCa,
A
XXY
24
genetic disorder group associated w/ Adv mat age?
trisomies
25
risk of recurrent DS in partial translocation?
15%
26
risk of DS at age 40 vs age 22?
40: 1/90
22: 1/1500
27
punched out scalp lesions, polydactyly, leukocyte nuclear projections, uterine issues, cleft lip/palate, cystic kidneys
trisomy 13 (Patau)
28
rocker bottom feet, clenched fist/overlapped fingers, hypoplastic nails, prominent occiput, horseshoe kidney, failure to thrive, hypertonia, CHD
Edwards, trisomy 18
29
ASD and upper limb defects, three-jointed thumbs
Holt oram
30
high uric acid, self mutilation, choreiform
lesch nyhan
31
irreg cafe au lait, fibrous dysplasia, precocious puberty.
Dx?
Defect?
Mccune albright
| Defect is activating mutation in GNAS1 (adenylate cyclase-stimulating protein)
32
what is pseudo hypogonadism and its clue
normal sized genitalia but large body: clue: gynecomastia
33
laurence moon biedly syndrome features?
similar to prader willi but w/ lots more issues, progressive CNS, ophthalmologic (retinal dystrophy), endo issues.
34
loss or duplicates of which chromosome 15 results in PW vs Angelman?
PW: loss of paternal or two maternal
AS: loss of maternal or two paternal
35
CATCH 22
features
genetics
22q11, Digeorge
| Cardiac (aortic arch), Absent thymus, Tcell def, Cleft palate, Hypocalcemia, 22chrom, microdeletion: FISH
36
Clue for X linked recessive
males affected
females carriers
no male-->male transmission
37
Inheritance for G6PD, chronic granulomatous disease?
x linked recessive: enzyme def
| think: GXPD, CXGD
38
pattern of inheritance nephrogenic diabetes insipidus
X linked recessive
39
pattern of inheritance? Retinitis pigmentosa
X linked recessive
40
pattern of inheritance: testicular feminization
x-linked recessive
41
pattern of inheritance, wiskott aldrich
x linked recessive
42
distinguishing feature of Xlinked dominant (vs autosomal dom)
no male to male trm
43
pattern of inheritance: Vitamin D resistant rickets and pseudohypoparathyroidism?
X-linked dominant
44
Pattern of inheritance? Aicardi
X-linked dominant
45
pattern of inheritance, Alport syndrome (renal disease, cataracts, hearing)
x-linked dominant
46
TAR MAN of autosomal dominant conditions?
TS, Achondroplasia, Rb, Marfan, Apert (cranio), Nail-Patella syndrome, NF
47
Additional Non-TARMAN AD disorders?
Waardenburg, Huntington, Peutz-Jegher, vWD, Gardner
| GPHVW?
48
GASP WHAT A (Recessive) Kartagener, for AR disorders? (10)
Galactosemia, A1AT, Sickle/Thal, PKU
Wilson, Hurler, Ataxia-Telangiectasia, Taysachs
Adrenogenital / Alpers
Kartagener
49
When can CVS vs Amnio be done?
12 wk, 16 wk
50
predicts fetal lung development?
phosphatidylglycerol component of surfactant
51
AED w/ incr risk of spina bifida
carbamazepine, VPA
52
AED causing finger stiffness, severe nail hypoplasia in utero
phenytoin
53
Face described as broad bridge of nose, small anteverted nipples, long upper lip
AEDs
54
opening of tricuspid valve too close to apex of right vent
| name this and what causes it
Ebsteins anomaly, lithium in preg
55
Features of teratogenicity isotretinoin
Microcephaly, microphathalmia, hypoplastic ears, truncus arteriosis, absent thymus
(shrinks pimples, but also head, eyes, ears, thymus and throws in truncus!)
56
effects of warfarin on fetus
depressed nasal bridge, short nose, hypoplastic distal phalanges, stippled epiphyses
57
ACEi in fetus
anuria, oligo, hypoplasia of skull, fetal hypotension
58
CHARGE association?
```
Coloboma/cognitive
heart
atresia (choanal)
retarded growth
GU (genital hypoplasia)
Ear anomaly/hearing loss p
```
59
VACTER-L?
Prego finding?
Intelligence?
```
Vertebral defects
Anal atresia
Cardiac/VSD
TE Fistula
Radial hypoplasia, Renal anomaly
Limb abnormalities
```
* Single umbilical artery
* Normal Intelligence
60
when should craniosynostosis be corrected?
before 5mos!
61
amnion nodosum, glove like excess hand skin
Potters, yellow nodules on fetal membranes
62
broad thumb, cryptoorchidism
Rubinstein-Taybi (thumby)
63
Pfeiffer syndrome?
thumbs, great toes broad and eyes prominent/widely spaced
64
triangle face, small chin, growth retardation
Russel Silver syndrome
65
bladder outlet obstruction, oligohydramnios, pulm hypoplasia, testes undescended
Prune belly from lack of abdominal muscle development
66
conductive hearing loss, small jaw/ear anomaly, lower eyelid anomaly?
IQ?
GEnetics
Treacher Collins
Normal IQ (Teacher can't open eyes or hear though)
Dominant teacher AD
67
rhizomelic shortening?
short limbed dwarfism, esp of proximal limb in achondroplasia
68
brain issue in achondroplasia
foramen magna small: nerve root compression
69
coarse face, corneal clouding, thick skulls
| Genetics?
Hurler, MPS type 1
| autosomal recessive
70
hunter vs hurler
hunter: x linked, NO corneal clouding, hunter's have skeletal abnormalities and are short
71
Hypercalcemia and supravalvular aortic stenosis?
Williams
72
most common chromosomal cause of ID?
Fragile X
73
testicle size in Fragile X
macro
74
trinucleotide in FrX
CGG, do DNA testing
75
pointed nose, bird like face, small eyes, small teeth
Hallermann Streiff syndrome
76
posterior positioning of tongues, small chin, cleft palate, extremity anomalies: syndactyly, clinodactyly, hip/knee anomaly, spinal deformity, CNS issues?
long term complication?
Pierre Robin
| Cor pulmonale
77
primary defect in achondroplasia?
FGFR3: fibroblast growth factor
78
dwarfism that is lethal?
Thanatophoric dysplasia
| like achondroplasia, but lethal b/c of pulmonary hypoplasia
79
Treatment needed in Marfan?
| Primary defect?
Atenolol, Losartan for aortic root dilation
| primary defect: Fibrillin
80
primary defect in osteogenesis imperfecta?
| Tx?
collagen type 1 (COL1A1 or COL1A2)
| tx: bisphosphonate, ? GH
81
Blue sclerae, macrocephaly, growth retardation, triangular face, limb asymmetry
Russell Silver syndrome
82
ASD, no thumb (looks like five fingers or absent or hypoplastic)
Dx and primary defect?
Form of trm?
Holt Oram
| AD, (TBX5 defect = transcription factor, controlling master gene)
83
lid coloboma, hypertelorism, hypoplastic ears, micrognathia, cleft palate, palpebral fissures downslanting
Dx? Defect?
Treacher Collins
| AD
84
Hemifacial microsomia, unilateral ear anomaly, micrognomia, dermoid, colobomas, Cspine abnormality, hearing loss?
DX and what is it?
```
Goldenhar syndrome (facio-auriculo-vertebral spectrum)
Sporadic, unilateral: defect is from disrupted stapedial artery / 1st/2nd branchial arch defect
```
85
short stature, synophyrs (unibrow), anteverted nares, long philtrum, "carp" mouth, ID, cardiac defects, upper limb anomaly, low hairline
Cornelia deLange
86
classic X-linked dominant disorder?
Rett
87
% of fetal dilantin syndrome in exposed fetus
10%
88
trisomy 18 vs trisomy 13
polydactyly, cutis aplasia, microphthalmia is trisomy 13
89
% of trisomy 18 or 13 that survive 1 year
10
90
infantile / fetal lymphedema
turner
91
which is imprinted and which is duplicated in PW vs AS
PW: maternal activated, paternal imprinted
AS: paternal activated, maternal imprinted
92
first test for Angelman Syndrome or PW
methylation study
93
hypercalcemia in newborn period should raise concern for what syndrome?
Williams
94
likely diagnosis of elephant man, Joseph Merrick
Proteus and NF1?
95
TS chromosome defects (2)
tuberin chromosome 16
| hamartin chromosome 9
96
eye issue that can be seen in Sturge Weber/
glaucoma (60%)
97
inheritance Sturge Weber?
sporadic
98
Klippel Trenaunay Weber?
sporadic w/ port wine stain extremities, normal intellect, hemangiomas, hemihypertrophy
NO FACE / BRAIN involvement
99
iris heterochromia and white forelock, other white spots (leukoderma), cochlear deafness
Waardenburg Syndrome
100
Two x-linked dominant diseases
Rett
| Incontinentia Pigmenti
101
features of incontinentia pigmenti
| Swirled lesion
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
hypomelanosis of ito: whorls has what other issues/
dental, colobomas, cataracts, limb anomalies, ID, sz, neuronal migration anomaly
103
Tons of "omas" and PTEN mutations?
| Port wine stains, lots of masses, skin issues, hemihypertrophy...
Proteus
104
conditions with cherry red spot
Tay sachs, Sandhoff, Nieman pick, GM1 gangliosidosis-HSM
105
diagnosis of Tay sachs?
measure beta hexaminidase in WBC/DNA testing
| GM2 ganglioside
106
Immunologic issue in ataxia telangiectasia
absence of IgA and decreased IgE
107
adrenal calcification, HSM, v/d, growth failure
| Dx and defect
Wolmans Dz, lysosomal acid lipase defect
108
adrenal insufficiency, dysmorphism, gonadal dysgenesis, limb anomaly, FTT?
Dx and defect
SLO, 7-dehydrocholesterol C7 reductase def
109
normal cosyntropin response?
peak value > 18mcg/dL or difference of basal and stimulated value >9mcg/dL
110
carrier rate of CF
| rate of CF
1/25 carrier
| 1/3300 in caucasions
