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Genetics Flashcards

0
Q
  • pectus excavatum
  • webbed neck, low set ears, low hairline
  • pulmonic stenosis, HCM
  • hypertelorism, downslanting, epicanthal folds
  • deeply grooved philtrum
  • dev delay, MR
  • high freq SNHL
  • joint laxity
A

Noonan’s Syndrome

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1
Q
  • webbed neck
  • delayed secondary sexual characteristics
  • coarctation
  • short stature
  • poor breast development
  • short 4th and 5th metacarpal bones
  • widely spaced nipples
  • pedal edema
  • 45XO: MC Xsome defect in spontaneous abortions
  • NOT associated with advanced maternal age
A

Turner Syndrome

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2
Q
  • deletion of the short arm of Chromosome 5

- high pitched cry

A

Cri du chat

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3
Q
  • craniosynostosis
  • syndactyly
  • choanal atresia
  • retardation
A

Apert Syndrome

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4
Q
  • ataxia
  • partial seizures
  • retardation
  • liver disease
A

Alpers Syndrome

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5
Q
  • renal disease
  • SNHL
  • cataracts
A

Alport Syndrome

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6
Q
  • look like old man
  • photosensitive skin
  • ophthalmological problems
A

Cockayne Syndrome

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7
Q
  • loss of minerals in urine
  • FTT
  • Rickets
A

Fanconi Syndrome

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8
Q
  • craniosynostosis
  • high prominent forehead
  • shallow orbits
  • proptosis
  • beak nose
  • autosomal dominant
A

Crouzon Syndrome

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9
Q
  • 47 XXY
  • infertile
  • small testes
  • socially awkward
  • normal intelligence
  • delayed speech
  • poor self image
  • mild motor delay
  • above average height
  • cafe au lait spots
  • Dx: karyotype
  • Tx: testosterone
  • advanced maternal age
A

Klinefelter Syndrome

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10
Q
  • full translocation: 100% recurrence
  • partial translocation: 15%
  • no translocation: 1% (gen population) + mother’s age related risk
A

Risk for Trisomy 21 recurrence

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11
Q

Dysplasia 5th finger
Ouch! Cardiac Dz
Wide gap toes 1-2
Neck- excess skin

Spots (Brushfield-eyes)
Y-protruding tongue
Nice simean crease
Duodenal atresia
Really extensible joints
Ouch! Leukemia risk
Moro reflex incomplete
Ears- small and anomalous
  • AV canal defect
  • Hirschsprung
  • hypotonia & feeding problems
A

Physical features of Down Syndrome

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12
Q

-Trisomy 21 with any neurologic findings

A

Atlantoaxial instability

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13
Q

Brain (holoprosencephaly, microcephaly, scalp lesions)
Airs (low set ears)
Digits (Extra polydactyly)

Leukocytes (nuclear projections in neutrophils)
Uterus (bicornate uterus & hypoplastic ovaries)
Cleft lip and palate (bilateral)
Kidneys (cystic)

A

Trisomy 13

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14
Q
  • clenched fist
  • rocker bottom feet
  • hypoplastic nails
  • prominent occiput
  • low set ears
  • horseshoe kidney
  • overlapping index finger over 3,4,5th digits
A

Trisomy 18

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15
Q
  • ASD
  • arm defects
  • 3 jointed thumbs

“Hold your arm”

A

Holt Oram Syndrome

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16
Q
  • self-mutilation
  • MR
  • choreiform movements
  • incr uric acid
A

Lesch Nyhan Syndrome

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17
Q
  • cafe au lait spots
  • abnl bones (fibrous dysplasia)
  • precocious puberty
A

McCune Albright

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18
Q
  • floppy baby
  • mildly retarded
  • obese later in life
  • small hands and testicles
  • large appetite
  • morbidity from Diabetes, OSA, SCFE
  • deletion of dad’s Xsome 15
  • maternal disomy (2 copies of 15)
A

Prader Willi

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19
Q
  • obesity
  • hypogonadism
  • significant gynecomastia
  • syndactyly
  • retinal dystrophy
A

Lawrence Moon Biedl Syndrome

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20
Q
  • severe developmental delay
  • profound speech impairment
  • ataxia/movement disorders
  • frequent laughter, easy excitability, short attention span
  • puppet children
  • deletion of mom’s Xsome 15
  • paternal disomy (2 copies of 15)
A

Angelman Syndrome

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21
Q
  • hypospadias
  • omphalocele
  • macroglossia
  • macrosomia
  • hypoglycemia
  • hemihypertrophy
A

Beckwith Wiedeman Syndrome

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22
Q
  • hypocalcemia
  • immune deficiency
  • cardiac outflow abnl
  • microdeletion–>FISH for Dx
A

DiGeorge Syndrome

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23
Q
  • males affected
  • females: carriers
  • no male to male transmission
Hemophilia A/B
G6PD Def
Chronic Granulomatous Disease
Duchenne Muscular Dystrophy
Nephrogenic DI
Retinitis Pigementosa
Testicular feminization
Wiskott Aldrich
A

X-linked recessive

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24
- fathers give to ALL daughters - no sons will be affected by dad - mom passes onto 50% of children Vit D resistant Rickets Pseudohypoparathyroidism Aicardi syndrome Alport syndrome
X linked Dominant
25
- macrocephaly - seizures - ocular abnl - abscence of corpus callosum - X-linked DOMINANT
Aicardi Syndrome
26
-can be transmitted from father to son -variable expressivity -reduced penetrance Tuberous Sclerosis Achondroplasia Retinoblastoma Marfan Alpert, All Porphyrias Neurofibromatosis/Nail patella Waardenburg Huntingtons Peutz-Jeghers VonWillebrand Gardner
Autosomal Dominant
27
Galactosemia Alpha 1 antitrypsin deficiency Sickle Cell/thalassemia Hurler Ataxia telangectasia Tay Sachs Wilson disease Androgenital Syndrome/Alpers Syndrome Kartageners +PKU
Autosomal recessive disorders
28
- best test to predict fetal lung maturity | - absent prior to 35 weeks
phosphatidylglycerol
29
- prenatal and postnatal growth delay - developmental delay - flat philtrum - thin upper lip - midface hypoplasia - short palpebral fissures - small 5th fingernail
Fetal Alcohol Syndrome
30
- microcephaly - IUGR - facial abnl (broad nose, anteverted nostrils, long upper lip) - fingernail hypoplasia - cardiac defects - cleft lip, hypospadias - cryptorchidism - club feet
prenatal antiepileptic exposure
31
Drug that causes: - spinal problems - facial deformities
Carbamazepine
32
Drug that causes: - finger stiffness - severe nail hypoplasia - cardiac, skeletal, and ophtho anomalies
Phenytoin
33
-AED associated with NTDs
Valproic acid
34
- Drug associated with: | - Ebstein's anomaly during pregnancy
Lithium
35
Drug associated with: - microcephaly - microphthalmia - hypoplastic ears - truncus arteriousus - absent thymus
Isotretinoin
36
Drug associated with: - depressed nasal bridge - short nose - hypoplastic distal phalanges - stippled epiphysis
Warfarin
37
Drug associated with: - anuria - oligo - skull hypoplasia - fetal hypotension
ACE inhibitors
38
``` Coloboma Heart Dz Atresia (choanal) Retarded growth and development GU abnl (genital hypoplasia) Ear abnl (hearing loss) ```
CHARGE assocociation
39
``` Vertebral defects Anal atresia Cadiac (VSD) TE fistula Radial hypoplasia/ Ranl probs Limb abnl **single umbilical artery normal intelligence ```
VACTERL
40
- club feet - pulmonary hypoplasia - glove-like excess skin - yellowish nodules - oligohydramnios - w/u: RUS for GU abnl
Potter Syndrome
41
- broad thumb | - cryptorchidism
Rubinstein-Taybi Syndrome (Thumby)
42
- short broad thumb and toes | - prominent widely spaced eyes
Pfeiffer Syndrome
43
- triangle face (small chin) | - growth retardation
Russell Silver Syndrome
44
- bladder outlet obstruction - oligo - pulm hypoplasia - undescended testes - lack of abdominal musculature
Prune Belly (Eagle Barrett)
45
- conductive hearing loss - small jaw - ear abnl - lower eyelid abnl - normal intelligence - dominant trait (one or more family members with hearing aid)
Treacher Collins
46
- seizures | - mental retardation
Tuberous Sclerosis
47
- large heads - very short extremities - frontal bossing - lumbar lordosis (nerve root compression) - OSA - normal intelligence
Achondroplasia
47
- large heads - very short extremities - frontal bossing - lumbar lordosis (nerve root compression) - OSA - normal intelligence
Achondroplasia
49
- mucopolysaccharidoses Type 1 - coarse facies - corneal clouding - thick skulls - HSM - progressive deafness
Hurler Syndrome
50
- X-linked - short with skeletal abnl - HSM - progressive deafness
Hunter Syndrome
51
- elfin facies - widespaced teeth - upturned nose - mild retardation - incr Ca - supravalvular aortic stenosis
Williams Syndrome
52
- MC Xsomal cause of MR - males usually - mildly retarded - h/o weird uncles - long face - large ears - macrorchidism - Dx: DNA testing better than karyotype
Fragile X Syndrome
53
- girl about 1-2 yo - loss of developmental milestone - autistic-like behavior - wringing hands - decr HC
Rett Syndrome
54
- pointed nose - bird-like facies/small eyes - small teeth
Hallerman Streiff Syndrome
55
- mucosal penetration of lips and gums - harmatomatous polyps of the intestine - Tx: removal of polyps - Autosomal Dominant
Peutz-Jeghers Syndrome
56
- small chin - cleft palate - micrognathia - glossoptosis - syndactyly - clinodactyly - hip/knee abnl - kyphosis/scoliosis - CNS: seizures, DD - cor pulmonale
Pierre Robin Sequence
57
- port wine stain - dev delay - seizures - hemiplegia - vision probs/calcifcation - glaucoma - Tx: referral to ophtho
Sturge Weber
58
- small growth parameters - dev delay - truncal unsteadiness - midline hand behaviors - seizures - X-linked dominant
Rett Syndrome
59
- plateaued mental status - recurrent otitis and snoring - bony changes, joint contractures - HSM and umbilical hernias - incr glycosaminoglycans
Mucopolysaccharidoses

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