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Genetics and Derm Questions Flashcards

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1
Q

___% of duodenal atresia cases are due to T21

A

25-40%

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2
Q

Duodenal atresia usually diagnosed after ___ GA

A

20-25 w

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3
Q

Beckwith-Weidemann inheritance patterns

A

50% loss of methylation of maternal csome 11
20% uniparental disomy
5% gain of methylation on maternal csome 11

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4
Q

cutis aplasia a/w

A 
limp defects
cleft lip and palate
EB
Trisomy 13
4p-syndrome

benign form: aut dominant

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5
Q

CHARGE syndrome inheritance and major criteria

A 
Autosomal dominant
Major criteria: coloboma, choanal atresia, cranial n dysfunction, ear anomalies
Minor criteria: heart defects, genital hypoplasia, developmental delay, growth problems, cleft lip/palate, TEF, facial features
Coloboma
Heart defects
Atresia choanae
Renal anomalies/growth Restriction
Genital Hypoplasia
Ear anomalies
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6
Q

CHARGE syndrome gene

A

CHD7: chromodomain helicase DNA binding protein 7 : 67% of cases

AUT DOMINANT

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7
Q

T21 incidence and inheritance

A 
1/800 live births
Maternal nondisjunction
94%: complete trisomy
3-5% Robertsonian translocation
2% mosaicism (milder type)
  • endocardial cushion defects (AV canal)
  • Hperflexibility of joints, 5th finger hypoplastic, clinodactyly, transverse palmar crease
  • upslanting palpebral fissures, Brushfield spots (speckled iris), large tongue, redundant neck folds
  • hypotonia in newborn period
  • pelvic dysplasia, infertility, transient myeloproliferatice, leukemia (10-20x), alzheimer’s
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8
Q

Risk of congenital heart defects in T21

A

50%: endocardial cushion defect (complete AV canal) > VSD >PDA > anomalous subclavian artery, mitral valve prolapse, aortic regurgitation

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9
Q

Postnatal screening tests for T21 before discharge

A 
Echo
CBC
TFTs
hearing screen
Red reflex (cataracts)
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10
Q

Disorders a/w ADVANCED PATERNAL AGE

A

increased risk of de novo esp AUT DOM mutations

  • Achondroplasia
  • Osteogenesis imperfecta
  • Thanatophoric dysplasia
  • Apert syndrome
  • Crouzon syndrome
  • Neurofibromatosis
  • Retinoblastoma
  • Klinefelter syndrome and T21 (slightly)
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11
Q

Disorders a/w advanced maternal age

A

Klinefelter
T21
T19
T13

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12
Q

Disorders affecting Females > Males

A 
Choanal atresia (catFUR)
choledochal cysts
congenital hip dysplasia
ureterocele
hemangioma
TRISOMY 18
ASD, PDA
anencephaly
congenital hypOthyroidism
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13
Q

Cardiac defect recurrence risk

A

1 previous child: 2-4%

2 prev: 10%

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14
Q

Cleft lip recurrence risk

A

one prev child, unaffected parents: 4-5%

one child, one parent: 10%

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15
Q

cleft palate recurrence risk

A

one prev child: 2-5% risk

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16
Q

club foot recurrence risk

A

one child: 2-5% (male prev child: 2%, female prev child 5%

one child and one parent: 25% risk to next

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17
Q

Recurrence risk for
dev dysplasia of hip
Hirschsprung disease
Neural tube defects

A

one prev child: 3-5% risk in next

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18
Q

Recurrence risk pyloric stenosis

A

Mother with pyloric stenosis:
19% risk to son
7% risk to daughter

Father with pyloric stenosis:
5% risk to son
2 risk to a daughter

Prev child affected: 3% risk to next child

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19
Q

T21 recurrence risk

A

Mother with balanced translocation:
10-15% risk

Father with translocation:
5% risk

Prior child with T21: 1% (until AMA exceeds this)

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20
Q

T13 inheritance and features

A

80% complete trisomy (maternal origin), rest translocation

  • midline defects
  • VSD > pda
  • CUTIS APLASIA
  • polydactyly, transverse palmar crease
  • CLEFT lip/palate, small eyes, colobomas
  • cryptorchidism
  • HOLOPROSENCEPHALY
  • persistent fetal hgb (Gower), increased neutrophils with nuclear projections

Triple screen NOT helpful, 95% spont abortion, 90% die in first year

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21
Q

Trisomy 18 inheritance and features

A

1/6000, 90% die in 1st year
>95% with complete trisomy 18 (maternal origin in 90%)
Females>males

90%: VSD/PDA > bicuspid aortic valve, pul stenosis, coarct, tetrology of fallot

  • Pulm hypertension
  • clenched hand, overlapping fingers, hypoplastic nails, rocker bottom feet
  • ~pierre robin
  • cryptorchidism
  • hypertonia after neonataol period, narrow biparietal diameter
  • Single umbilical artery, IUGR, SHORT STERNUS
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22
Q

Cri du chat etiology and features

A
  • partial deletion 5p (of PATERNAL origin),

Cardiac: VSD, pda, tetrology of fallot
- downward slanting palpebral fissures, microcephaly, hypotonia, failure to thrive, cat-like cry

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23
Q

Colobomas, thumb hypoplasia, club foot, cryptorchidism

A

Deletion 13q Syndrome

increased risk of retinoblastoma (bilateral), low-set large ears, high nasal bridge

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24
Q

Greek warrior helmet, broad beaked nose

A 
Deletion 4p (Wolf-Hirschhorn syndrome)
- usually PATERNAL deletion, 1 parent has balanced translocation
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25
Q

Angelmann and Prader Willi chromosome

A

15q11-13

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26
Q

CREB microdeletion

A

Rubenstein-Taybi
csome 16q13.3
downslanting palpebral fissures, promninent beaked nose, eye problems,

hirsutism, keloids, cryptorchidism
postnatal growth issue
TUMORS: usually < 15yo

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27
Q

supravalvular subaortic stenosis, stellate iris

A

Williams syndrome
7q11.23 deletion; ELASTIN gene
supravalvular subaortic stenosis > peripheral pulmonic stenosis
hypoplastic nails, hoarse voice, prominent lips, stellate iris, MENTAL DEFICIENCY, transient hypercalcemia

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28
Q

contractures at birth, lens dislocation, mitral valve, chest deformity

A

Marfan syndrome

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29
Q

Marfan syndrome gene

A

fibrillin, csome 15q21

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30
Q

Noonan syndrome cardiac defect

A

dysplastic pulmonary valve > asd

pectus, coags (vWd), cystic hygroma, webbed neck, cryptorchidism

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31
Q

Holt-oram inheritance nad cardiac defect and features

A

Aut Dominant
csome 12q2

ASD, ABSENT THUMBS

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32
Q

Beckwith-weideman mortality

A

21% infant mortality

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33
Q

Osteogenesis gene and worse type

A

defect in type 1 collagen
AUTOSOMAL DOMINANT

4 types:
Type I: deafness, bruising, blue sclera, abnormal dentition
Type II: WORST, DARK blue sclera, still born or die early
Type III: blue sclera, fractures, abn teeth, deafness
T IV: normal to grey sclera, incre risk of bone

34
Q

Type II collagen mutation and inheritance

A

STICKLER Syndrome
csome 12q13
AUTOSOMAL DOMINANT

35
Q

PAX3 gene

A

Waardenburg
AUT DOMINANT

deafness, white forelock, profound hearing loss
Type IV: Hirschsprung

36
Q

Thumbs

A

Holt-oram syndrome: aut dom, absent thumbs, ASD, csome 12q2

Fancomi Pancytopenia: absent thumbs, aut rec, radial hypoplasia, short stature, hyperpigmentation, 35% mortality

Townes-Brocks syndrome: imperforate anus, dysplastic ears, thumb anomalies)

TAR: HAS thumbs, absent radii, thrombocytopenia, 40% mortality

37
Q

occipital encephalocele, cystic dysplastic kidneys

A

Meckel-Gruber Syndrome
Aut recessive, csome 17

CLEFT palate, cephalocele ear anomalies, micrognathia

38
Q

Low cholesterol, anteverted nostrils, cryptorchidism

A

Smith-Lemli-Opitz
Aut recessive
70% GU anomalies (failure of masculinization): hypogenitalia, hypospadias, cryptorchidism, renal
- low cholesterol, high 7-dehydrocholesterol)

39
Q

Congenital diaphragmatic hernia

absent corpus callosum

A

Fryn’s syndrome
AR
nail and finger hypoplasia, cystic hygroma, lots of neuro and GI
CDH, Hirschsprung, imperforate anus
Cloudy cornea, coarse facial features, anteverted nares (also in Smith-lemli-opitz)
Aortic abnormalities

40
Q

VACTERL association

A

V: vertebral (70%)
A: anal atresia (805)
C: Cardiac: VSD > tof/coarc
T: TEF (70%)
Renal anomaly (50%), 35% single umbilical artery
L: Limb dysplasia (65%, radial, also preaxial polydactyly/syndactyly)

IUGR, ear laryngeal stenosis, rib/spine
NO NDI

41
Q

Cleft lip and palate genetic disorders

A 
DiGeorge
Meckel-Gruber
Pierre Robin (palate)
Smith-Lemli-Opitz (palate)
Trisomy 13

Prenatal exposure:

  • cigarette smoking (2x)
  • phenobarb and phenytoin (10x)
  • retinoic acid
42
Q

Neurocutanous disorders

A

ALL aut dominant (except Sturge-weber and McCune albright (sporadic)

Sturge-weber: port wine stain, glaucoma, MACROcephaly (hyperplasia of endothelium), seizures, MR, hemiparesis, worse with age

McCune-Albright: coast of main, bone fibrous dysplasia, precosious puberty, hyperthyroidism, hyperparathyroidism, pituitary adenomas

Tuberous sclerosis: (csome 9, 16) ash lead (wood’s lamp), enamel pits in teeth, seizures, rhabdomyoma (cardiac), worse with age

Neurofibromatosis: (csome 17) 1/3500, paternal adv age, cafe ua lait (don’t cross midline), freckling, tumors (neurofibroma, schwanoma, pheochromocytoma, short stature, seizures, MR

von hippel-lindau: csome 3, overexpressed TF hypoxic inducible factor>tumor growth. CNS tumors: cerebellar, systemic hemangiomata, pheochromocytoma

43
Q

nodules on gums/maxillary alveolar ridge

A

Bohn’s nodules, spontaneously resolve

44
Q

skeletal dysplasia vs dysosteses

A

skeletal dysplasia: abnormal organization of cells during early patterning eventso f skeletal development. Primary: mutated genes, secondary: extraosseus factors

dysostoses: are malformations from insult during organogensis

45
Q

COL1A gene

A

Osteogenesis imperfect (Type 1 collagen)

46
Q

COL2A gene

A

Stickler syndrome (Type 2 collagen)
Aut DOMinant
- pierre robin seq

47
Q

FGF3

A

AUT DOMINANT

Thanatophoric dysplasia (extra/intracellular tyrosine kinase domain)

Achondroplasia: transmembrane domain

Paternal advanced age

48
Q

IFT80 gene

Hirscsprung disease, pancreatic and hepatic fibrosis

A

Jeune syndrome, aut recessive

49
Q

Most common deletion syndrome in humans

A

22q11.2: DiGeorge

50
Q

Fragile X genetics

A

CGG repeats on X-csome, X-linked dominant
>60 phenotypic
80% penetrance in males, 30% in females (>200 repeats)

51
Q

DMPK gene

A

Myotonic dystrophy (aut dom)

52
Q

% of clubfoot with another anomaly

A

66% if detected PREnatally

If postnatally detected: 10%

Bilateral Talipes: check for spina bifida

Treat EARLY, first few days

53
Q

Turner syndrome genetics and features

A

50% loss of entire csom, 45, X
30-40% mosaic:
- if 45, x/46,XX; some secondary sexual characteristics
- if 45x/46XY: GONADOBLASTOMA (exlap in childhood to remove tissue)

Majority spont abort
Cardiac: bicuspid aortic valve > coarc of aorta, aortic stenosis, mitral valve prolaps
- cubitus valgus
- cytic hygroma, webbed posterior neck,
- gonadal dysgenesis (streak gonads), primary amenorrhea, infertile, no secondary sexual characteristics,
- horseshoe kidney

Tx: GH, estrogen (to induce secondary characteristics,
- ECHO q5years: risk of aortic dissection, if dilated aortic root: yearly

MOST with NORMAL intelligence
Risk of diabetes, HTN, ischemic heart disease, stroke, thyroid disease, osteoporosis, liver disease

54
Q

Klinefelter syndrome

A

47, XXY: equally maternal and paternal errors (if maternal then AMA)
Cardiac: mitral valve prolapse, tof, asd, pda
- Long arms nad legs
- hypogonadism, hypogenitalia, gynecomastia, infertile because of atrophy of seminerfous tubules
behavioral and learning disabilities

RISK of EXTRAgonadal germ cell tumors

Tx: testosterone at 11-12y for secondary traits, consider mastectomy

55
Q

Cat-eye syndrome

A

EXTRA addition to 22q11 (vs digeorge is deletion

Cardiac: TAPVR, persistent left SVC
- coloboma, anal atressia down-slanting palpebral fissures, renal agenesis, MR

56
Q

Cornelia de lange gene

A

cohesin-associated genes:

  1. Aut dom: NIPBL on csome 5p13, mutation
  2. X-linked SMC1L1 on X
  3. SMC3 on csome 10

micromelia, synophrys, MR, CDH, undescended testes

57
Q

Expressionaless facies, micropnathia, club foot

A

Mobius sequence

  1. destruction of central brain nuclei
  2. hypoplasia or absence of central brain nuclei
  3. Peripheral nerve involvement
  4. myopathy

limb reduction defects, Poland sequence (no pectoralis muscle), Klippel-Feil anomaly (bone fusions)

58
Q

Pierre Robin sequence

A

Manidubular hypoplasia in 9 week of gestation
micrognathia, Cleft palate, glossoptosis

A/w: Trisomy 18, Stickler syndrome, Treacher-Collins , Fetal alcohol syndrome.

59
Q

Goldenhar

A

a/w maternal diabetes, 1st and 2nd brachial arch abnormalities

VSD > pda,tof,coarct

Deafness, NORMAL INTELLIGENCE
HEMICERTEBRAE, 70%: UNILATERAL renal abnormalities

60
Q

fused vertebrae, high and rotated scapula, torticollis

A

Klippel-Feil Sequence

61
Q

asymmetric limb hypertrophy, port wine stain

A

Klippel-Trenaunay Weber syndrome

asymmetric limb hypertrophy and vascular lesions

62
Q

absent pectoralis muscle, dectrocardia

A

Polan Sequence

75% right sided

  • if left-sided: dextrocardia, unilateral pectoralis hypoplasia
63
Q

cafe au lait spots, excessive sweating, small triangular face, asymmetric skeleton, small stature

A

Russell-Silver syndrome

c-some 7

64
Q

Hypotelorism

A

a/w holoprosencephaly

Meckel-gruber, williams syndrome, T13

65
Q

Limb hemihypertrophy

A

Beckwith-weideman

Klippel-Trenaunay-Webet

66
Q

Hypertelorism

A 
Apert/Crouzon
Cri du chat
Cat-eye
del 13q
DiGeorge
Noonan and turner
Trisomy 8
67
Q

Arachnodactyly

A

homocystinuria

Marfan syndrome

68
Q

Hypogenitalia

A

Smith-lemli-opitz
Carpenter syndrome
Klinefelter
Prader-Willi

69
Q

Syndactyly

A 
Apert
Carpenter
Cornelia de lange
Poland sequence
Smith-Lemli-Opitz
T21
VACTERL
70
Q

Leigh syndrome

A

Mitochondrial (maternal) inherited progressive neurodegenerative disease

71
Q

McCune Albright gene

A

GNAS1 gene

72
Q

NF1 diagnosis

A

2 or more:

  • > 6 cafe cau lait (>5mm)
  • > = 2 neurofibromas
  • 1 plexiform neurofibroma
  • axillary or inguinal freckling
  • optic glioma
  • > 2 lisch nodules
  • first degree relative with NF-1
73
Q

NF2 diagnosis

A

bilateral acoustic neuromas

or unliateral with
- cataract, meningioma, schwannoma, flioma, or juvenile lenticular opacity

74
Q

6 or more cafe au lait spots, acillary or inguinal frecklling, macrocephaly
negative NF1 testing

A

Legius syndrome

Aut Dominant, SPRED1 gene

75
Q

> = 6 cafe au lait spots only, no other findings

A

Familial multiple cafe au lat

Aut Dom

76
Q

white spots on umbilical cord

A

listeria or candida

Listeria: widespread granulomas, skin and organs = poor prognosis. Skin stuff only in early-onset disease

77
Q

EB types

A

Simplex:

  • no scappring
  • intra-epidermal blisters
  • Aut DOMINANT
  • heal quickly

Dystrophic:

  • aut recessive or dominant
  • intra-DERMAL blisters
  • decrease in Type 7 collagen, increased collagenase
  • AR type more severe
  • cyclic blistering
  • can be present at birth, anemia, dysphagia, poor growth

Junctional:

  • atrophic scarring
  • blisters at dermal/epidermal junction
  • dystrophic nails, oral and anal mucosa involved
  • short life span, electrolytes abnormal
  • may be w/ pyloric stenosis
78
Q

incontinentia pigmenti

A 
X-linked DOMINANT, males die in utero
linear vesicles with EOSINOPHILS
- pigmented warts on red base
- whorls on trunk and extremities
- linear streaks atrophic later
- spastic paralysis, abnormal dentition, nail hyopplasia
- 80%: associated CNS, eye defects
no treatment
79
Q

contiguous gene disorder

A

deletion of duplication of multiple genes that are close together: angelman

80
Q

cells in incontinentia pigmenti linear lesions

A

eosinophils

81
Q

thick scale diaper rash involving creases

A

psoriatic diaper dermatitis:

topical emollient and low potency corticosteroid

Genetics and Derm (1 decks)

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