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Neo Board Review > Genetics > Flashcards

Genetics Flashcards

1
Q

Malformation

A

Abnormal tissue formation (e.g. renal agenesis, micrognathia, cleft palate, CHD)

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2
Q

Deformation

A

Associated with altered mechanical forces (extrinsic or intrinsic) on normal tissue (e.g. arthrogryposis from in utero constraints)

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3
Q

Disruption

A

Breakdown of normal tissue; destructive (e.g. amniotic bands, porencephaly, limb reduction from vascular anomalies)

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4
Q

Dysplasia

A

Abnormal organization of cellular formation into tissue; deregulation (e.g. hemangioma, ectodermal dysplasia)

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5
Q

Syndrome

A

Pattern of many primary malformations due to one etiology d/t ch abn, single gene d/o, or teratogen

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6
Q

Sequence

A

Primary defect with secondary effects (e.g. pierre robin sequence 2• to primary mandibular maldevelopment with secondary findings of micrognathia, cleft palate, and glossoptosis)

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7
Q

Mitochondria do

A

Can present at any age
S/s: lethargy, hypotonia, FTT, seizures, cardiomyopathy, hearing or visual deficits, movement do

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8
Q

Recurrence risk cardiac defect
1 previous child
2 previous children

A

1 previous -> 3-4% risk to next child
2 previous -> 10% risk to next child

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9
Q

Recurrence risk of cleft lip
1 previous child with unaffected parents
1 previous child with 1 affected parent

A

1 child & unaffected -> 4-5%
1 child & 1 affected -> 10%

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10
Q

Recurrence risk of cleft palate
1 previous child

A

1 previous -> 2-6%

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11
Q

Recurrence risk of club foot
1 previous child
1 previous child and 1 affected parent

A

1 previous -> 2-5%
1 previous and 1 parent -> 25%

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12
Q

Recurrence risk of Hirschsprungs
1 previous

A

1 previous child -> 3-5%

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13
Q

Recurrence risk of NTD
1 previous child

A

1 previous -> 3-5%

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14
Q

Recurrence risk of pyloric stenosis
Father
Mother
1 previous child

A

Father -> 5.5% son 2.4% daughter
Mother -> 19% son 7% daughter
1 previous child -> 3%

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15
Q

Recurrence risk of T21
Mother balanced translocation
Father balanced translocation
1 previous child & no translocation

A

Mother balanced translocation -> 10-15%
Father balanced translocation -> 5%
1 previous child & no translocation -> 1% unless AMA

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16
Q

Allele frequency calculations

A

p + q = 1 for allele frequency and then x100 for percent
p^2 + 2pq + q^2 = 1 where p^2 is AA, 2pq is Aa and q^2 is aa
For calculating prevalence, recessive and dominance, etc

Page 92 & 93 for examples

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17
Q

T13
Features

A

Patau syndrome
Midline abnormalities
Cardiac (vsd > pda)
Cutis aplasia
Narrow hyperconvex fingernails
Cleft lip, palate, small eyes
Holoprosencephaly
Persistent fetal Hb
Increased PMN with nuclear projections

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18
Q

T18
Clinical features
Triple screen

A

Edwards syndrome
Cardiac (vsd, pda > bicuspid Av, PS, CoA, TOF)
Clenched hands with overlapping
Small mouth
Short sternum
Triple screen: low bHCG, low unconj estradiol, low afp

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19
Q

T21
Clinical features
triple screen

A

94% complete trisomy
3-5% robertsonian translocation
2% mosaicism
Cardiac (endocardial cushion defect > vsd > pda > anomalous subclavian artery, mvp, AR)
Hyperflexibility of joints
Upslanting palpebeal fissures, flat nasal bridge, brushfield spots (speckled iris), short neck
Hypotonia
Tmd (can present in utero with hydrops)
Leukemia (15-20x compared to general population)

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20
Q

T21 postnatal eval

A

Echo
Red reflex (r/f catarct)
Mbss if issues feeding
Hearing screen
Carseat test if hypotonia
Cbc for tmd
Tsh

First year: referal to sleep medicine if c/f OSA, peds ophtho, repeat tsh at 6 & 12 mo then annual, hb at 1year

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21
Q

Cri du chat syndrome

A

Deletion 5p
Deleted portion is of paternal origin in 80%
CV: VSD, PDA, TOF
Facial: hypetelorism, downward slant palpebral fissures
Neuro: cat like cry, IQ, microcephaly, hypotonia
FTT

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22
Q

Deletion 13q syndrome

A

Thumb hypoplasia, colobomas, ^risk of retinoblastoma, microcephaly, high nasal bridge

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23
Q

Wolf Hirschhorn syndrome

A

Deletion 4p
High forehead, broad or beaked nose, hyperteleorism, low set simple ear with preauricular dimple, microcephaly, cranial asymmetry

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24
Q

Angelman syndrome

A

70% d/t 15q11-13 deletion - deleted maternal origin
20-30% d/t point mutation or other abn of maternal 15q11-13 region
Puppet like gait, elfine, seizures

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25
Q

22q11.2 microdeletion

A

Majority de novo
CATCH 22 - cardiac, abn facies, thymic hypoplasia, cleft palate, hypocalcemia
AD
Aortic arch abn, vsd, pda, tof
Deficient cellular immunity

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26
Q

Prader willi Syndrome

A

75% deletion of paternal origin 15q11-13
Small hands and feet, undescended testes, hypotonia
Test - methylation analysis
Ch analysis to assess recurrence risk
Can do FISH

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27
Q

Rubenstein Taybi syndrome

A

Majority sporadic
16p13.3
Cardiac, broad thumbs, broad first toe, downward palpebral fissures, hypoplastic maxilla, narrow palate, prominent or beaked nose, microcephaly

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28
Q

WAGR syndrome

A

11p13 microdeletion
Wilms tumor, aniridia, gu abn, IQ

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29
Q

Williams syndrome

A

7q11.23 deletion leads to deletion of elastin gene
Supravalvar subaortic stenosis > pps
Hypoplastic nails, prominent lips, stellate iris, IQ

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30
Q

Apert syndrome

A

Acrocephalosyndactyly
AD
Majority sporadic
Mut FGFR 2
Hypertelorism, midface hypoplasia, broad thumb and big toe, syndactyly, craniosynostosis

31
Q

Crouzon syndrome

A

Craniofacial dystosis
AD
mut FGFR 2
Hypertelorism, maxillary hypoplasia, craniosynostosis, shallow orbits

32
Q

Holt Oram syndrome

A

AD with variable expression
Cardiac: ASD, VSD, CoA, conduction defect
Upper limb defects, absent hypoplastic or abn shaped thumbs, narrow shoulders

33
Q

Marfan syndrome

A

Abn fibrillin gene on 15q21.1

34
Q

Noonan

A

Abn mapping of 12q22 region
Sporadic but can be AD
Dysplastic pulm valve, asd, cardiomyopathy
Pectus excavatum
Webbed neck
Abn coagulation pathway

35
Q

Ddx for noonan

A

45 X/XY mosaic
Fetal hydantoin exposure
Fetal alcohol syndrome

36
Q

Stickler syndrome

A

AD variable expression
Mut type II collagen on 12q13
Hereditary arthri-ophthalmopathy
Flat facies
Can be a/c pierre robin
Cataracts, retinal detachment, myopia, spondyliepiphyseal dysplasia (flat vertebrae with anterior wedging, poorly developed distal tibial epiphyses, flat femoral epiphyses)

37
Q

Treacher collins syndrome

A

AD, variable expression
Manibulofacial dysostosis
May result from mut in TCOF1 gene (ch 5) => 1st and 2nd branchial arch maldevo
Lower eyelid coloboma, mandibular hypoplasia, dysmorphic ears, malar hypoplasia
Conductive hearing loss

38
Q

Ellis-van Creveld syndrome

A

AR
Chondroectodermal dysplasia
Single atrium or ASD
short distal extremities, polydactyly
Narrow thorax
50% mortality in infancy d/t cardioresp difficulties

39
Q

Fanconi pancytopenia syndrome

A

AR
^# of ch breaks in lymphocytes ans AF cells
Hyperpigmentation, radial and thumb hypoplasia, short stature
Pancytopenia (typically presents in childhood)
35% mortality and have ^ risk of AML

40
Q

Meckel Gruber syndrome

A

AR
Cardiac defect, polydactyly, occipital encephalocele, cystic dysplastic kidneys
Range of phenotypic variability

41
Q

Smith Lemli Opitz syndrome

A

AR
Defect in cholesterol synthesis
2nd and 3rd toe syndactyly, anteverted nostrils, cataracts, hypogenitalia, hypotonic in infancy to hypertonic
Prenatal diagnosis is possible (dec AF cholesterol)

42
Q

Thrombocytopenia radial aplasia syndrome

A

AR
Low plt, eosinophilia, granulocytosis, anemia
Absent blt radii and ulnar abn
40% mortality because of hemorrhage early in infancy

43
Q

Fryns syndrome

A

AR
CDH, ^risk of hirschsprung, duodenal atresia, imperforate anus
Dandy walker malformation, IQ low
Cloudy cornea, coarse facial features
Digital and nail hypoplasia

44
Q

Menkes syndrome

A

X linked recessive
Kinky hair syndrome
Abn of copper transport leading to copper deficiency
Copper is a cofactor for many enzymes
Progressive cerebral deterioration, hypertonia, seizures
Majority death in early infancy

45
Q

Charge syndrome and work up

A

Ch8q12 mut in CHD7 which alters chromatin
AD but majority de novo
Eval: echo, ophtho, otolaryngology, RBUS, hearing screen, CT temporal bones, karyotype
Need 4 mj or 3 mj & 3 minor

46
Q

Cat eye syndrome

A

Extra part of ch 22 usually at 22q11 position
Cardiac, anal atresia, coloboma of iris

47
Q

Cornelia de lange syndrome

A

Mut in 1 of 3 cohesin-associated genes
Vsd>tof
Micromelia, synophyrs, thin down turning upper lip, initial hypertonicity

48
Q

Golderhar syndrome

A

Oculo-auriculo-vertebral spectrum or facio-auriculo-vertebral spectrum
Unknown etiology
1st and 2nd brachial arch abnormalities
Vsd>pda>tof>coa
Microtia, malar maxillary or mandibular hypoplasia, ear tags or pits, microphthalmia
Deafness with normal intelligence
Unilateral renal anomalies

49
Q

Klippel Feil sequence

A

Unknown etiology
Early developmental defect of cervical vertebrae
Short neck, low hairline, limited rom of head, deafness
Can be a/c sprengel deformity (failure of scapula to descend)

50
Q

Klippel Trenaunay Weber syndrome

A

Unknown etiology
Asymmetric limb hypertrophy
Vascular lesions

51
Q

Poland sequence

A

Unknown etiology
Unilateral hypoplasia or absence of pectoralis muscle

52
Q

Russel silver syndrome

A

Small triangular facies, micrognathia, short stature, congenital asymmetry of skeleton, 5th finger clinodactyly

53
Q

VACTERL association

A

Increased risk in IDM
Can have VACTERL with H for hydrocephalus
Can have fanconi anemia
Dx of exclusion
3 major required
Those who meet criteria, 1/2 will have genetic abnormality and 1/2 will have isolates VACTERL

54
Q

Evaluation for VACTERL

A

CXR, echo, RBUS, xray spine, spinal US, HUS, radiograph of extremities if visual abn, ophtho exam
Cbc (for overlapping abn)
Chromosomal analysis - microarray to exclude other causes
Ch breakage assay to assess for fanconi anemia

55
Q

Trisomy 21 evaluation

A

Newborn: echo, red reflex, consider MBSS, cbc (for tmd), brainstem auditory evoked response or otoacoustic emission, ATT if hypotonic, TSH if NBS only tests fT4

First year: CBC annually starting at age 1, TSH at 6 and 12 months, sleep study if osa, cervical spine neutral position for procedures, ophthalmology eval by 6 months

56
Q

Cri du chat syndrome

A

5p deletion syndrome (usually deleted portion is parental)
Hypertelorism, down slanting palpebral fissures, round face, epicanthal folds, strabismus, low ears
Mental deficiency, cat like cry (abn laryngeal development), microcephaly, hypotonia
30% have VSD, PDA, TOF

57
Q

Deletion 13 q syndrome

A

Colobomas, risk retinoblastoma, hypertelorism, ptosis, high basal bridge, low set and malformed ears, micrognathia, microcephaly

Thumb hypoplasia, 5th finger clinodactyly, short big toe

Hypospadius, cryptorchidism
IUGR, mental deficiency

58
Q

Deletion 4p syndrome (wolf hirschhorn syndrome)

A

Most de novo
High forehead, broad or beaked nose, hypertelorism, low set simple eat with preauricular simple, prominent glabella

Microcephaly, cranial asymmetry, hypotonia, seizures, cardiac abnormalities

59
Q

Arachnodactyly a/c

A

Homocystinuria and Marian syndrome

60
Q

Camptodactyly a/c

A

Trisomy 8
Isolated

61
Q

Cleft lip &/or palate a/c

A

CHARGE association, DiGeorge, meckel gruber, Pierre Robin, smith Lemli opitz, trisomy 13, goldenhar, treacher collins

62
Q

Clinidactyly a/c

A

Carpenter syndrome, Cornelia de Lange syndrome, deletion 13q, klinefelter, rubenstein taybi, t21, holt oram, prader willi

63
Q

Coloboma a/c

A

Cat eye syndrome, charge, deletion 13q, treacher collins, t13

64
Q

Cystic hygroma a/c

A

Noonan, Turner, t13,28,21

65
Q

Ocular hypertelorism a/c

A

Apert, cat eye, cri du chat, crouzon, deletion 13q, DiGeorge, Noonan, t8, Turner

66
Q

Hypotelorism a/c

A

Holoprosencephaly
Meckel gruber, Williams, t13

67
Q

Limb hypertrophy a/c

A

Beckwith wiedemann and klippel trenauney Weber syndrome

68
Q

Lip thick or prominent a/c

A

T8, WAGR, Williams

69
Q

Hypogenitalia a/c

A

Carpenter, klinefelter, prader willi, SLO

70
Q

Macroglossia is a/c

A

BWS, congenital hypothyroidism, t21

71
Q

Micrognathia a/c

A

Cat eye, charge, Cornelia de Lange, deletion 13q, DiGeorge, marfan, Meckel gruber, mobius, Pierre Robin, russel silver, SLO, t8, t18, WAGR

72
Q

Radial hypoplasia a/c

A

Fanconi, TAR, vacterl, Cornelia de Lange, holt oram, Poland, t13, t18

73
Q

Syndactyly a/c

A

Apert, carpenter, CdL, isolated, Poland, SLO, t21, vacterl

Neo Board Review (12 decks)

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