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Nicu Brodsky+Pediatrix+NeoReview Questions > Genetics/Derm > Flashcards

Genetics/Derm Flashcards

1
Q

Beckwith Wiedemann syndrome mode of inheritance(s)

A

50%: loss of methylation on maternal chromosome 11
20%: paternal uniparental disomy
5%: gain of methylation on maternal chromosome 11

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2
Q

Klippel-Trenaunay-Weber

A

port-wine stains with superficial vascular abnormalities; present at birth with underlying hypertrophy of bones or soft tissues

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3
Q

Sturge-Weber

A

unilateral port wine stain on head and neck; unilateral face in 1stor 2nddivision of trigeminal nerve distribution
Also have mental deficiency, seizures, hemiparesis contralateral to facial lesion, ipsilateral tramline intracortical calcifications, glaucoma, optic atrophy, buphthalmos

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4
Q

cutis aplasia

A

congenital absence of skin involving epidermis and dermis; can occur ANYWHERE, most common on scalp or trunk. Benign form is AD. Re-epithelizlize over several months. Associated with limb defects

Maternal MMI use

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5
Q

Staph scalded skin syndrome

A

fever, irritability, conjunctivitis, crusting around eyes/mouth; rapidly recovers without scarring

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6
Q

Infantile hemangiomas ________ until 6-8 months, then ______. Which require intervention?

A

grow for 6-8 months, then involute. 75% involute by age 7 without scarring or recurrence

Require intervention if large, ulcerate, become secondarily infected, or compromise airway or vision b/c location

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7
Q

CHARGE syndrome

A

autosomal dominant; mutation in gene chromodomain helicase DNA-binding protein 7 (CHD7), mutation detected in only about 67% of patients
MAJOR criteria = coloboma, choanal atersia/stenosis, CN dysfunction, ear anomalies

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8
Q

Down’s syndrome causes

A

95% of cases result from nondisjunction, 47 chromosome karyotype
3-4% unbalanced translocation
1-2% mosiac

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9
Q

nevus sebaceous of Jadossohn

A

hamartoma composed of abnormal amount of sebaceous glands and other adnexal structures. Solitary well-defined oval or linear yellow-to-orange waxy plaque with super imposed hair loss

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10
Q

Becker’s nevus

A

initially flat, hyperpigmented patch at birth

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11
Q

Cobb syndrome

A

cutaneomeningospinal angiomatosis, cutaneous angiomas and vascular abnormalities of spinal cord

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12
Q

Cutis marmorata

A

occurs in neonates less than 1 mo of age, T18, T21, Cornelia de Lange syndrome, or hypothyroidism. Presents with diffuse symmetric reticulated erythematous patten involving extremities and trunk

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13
Q

Incontinentia pigmenti

A

X-linked dominant. Linear inflammatory, pigmented warts, macular hyperpigmented streaks and whorls on trunk and extremities, hypopigented streaks that atrophy in childhood

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14
Q

Apert syndrome

A

(acrocephalosyndactyly) - AD, mutation in fibroblast growth factor receptor 2 gene. Fusion of the hands, skull, feet bones

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15
Q

Phenytoin maternal use increases risk of what condition

A

PHEN
cleft lip/palate
Hypoplastic face, small head, heart defects
Embryopathy
Hypoplastic nails / digits, Neuro defects

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16
Q

Bohn nodules
Ebstein pearls
Epulis
Ranula

A

Bohn nodules - 1-2 mm gray-white or yellow, on maxillary alveolar ridge
Ebstein pearls are on hard palate
Epulis - single, soft pedunculated nodule over gingiva of anterior maxillary ridge, multiple nodules
Ranula - translucent lesion that arises from floor of mouth and may appear blue

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17
Q

The different blots

A

Southern blot: DNA is digested and exposed to DNA probe
Northern: hybridization of labeled DNA probe to digested RNA fragment
Western: proteins are separated based upon size and charge and specific antibody is used as probe to identify protein
Dot blot: patient’s DNA is amplified in region of known mutation and applied to membrane

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18
Q

FISH vs microarray

A

FISH: synthesis of single-stranded DNA probe that is complementary to sequence of interest, tagged with fluorescent marker (Trisomies, prader-Willi, Angelman, cri du chat, Digeorge, other genetic dz)
Microarray: analysis of molecular fragments of DNA to determine of genomic gain or loss has occured

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19
Q

Name genetic abnormalities for OI, achondroplasia, Stickler syndrome, Ellis-van Creveld syndrome, Jeune syndrome

A

OI: COL1A
Thanatophoric dysplasia / achondroplasia: FGFR3
STickler syndrome: COL2A
Ellis-van Creveld syndrome: EVC1, 2
Jeune syndrome: IFT80

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20
Q

Trisomy 13

A

VSD, cleft lip/palate, narrow hyperconvex fingernails, cutis aplasia

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21
Q

Majority of T 13, 18, and 21 is extra chromosome of _______ origin

A

maternal

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22
Q

Fragile X syndrome

A

MACROcephaly (large ears, large head, large testes)

X-linked dominant

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23
Q

dermis of premature infants have _____ collagen fibers compared to term infants

A

fewer

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24
Q

Eccrine or sweat glands of infants < 30 weeks are ________

A

NONfunctional (anhidrosis)

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25
Q

Eccrine glands of term infants have ______ activity for first week of life, ______ neurologic control for up to 3 years

A

decreased x2

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26
Q

Preterm infants have significantly ______ SA - V ratio compared to term infants and adults

A

increased

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27
Q

Preterm infants have ______ number of melanosomes compared to term infants

A

1/3

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28
Q

Linkage Studies

A

indirect method to diagnose genetic diseases, uses loci that are near each other on same chromosome or “linked” to determine of an individual has inherited chromosome containing a disease gene

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29
Q

Williams syndrome

A

7q11.23 deletion of elastin gene
50-70% have supravalvular subaortic stenosis, hypoplastic nails, prominent lips, hoarse voice, stellate iris pattern, renal anomalies

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30
Q

WAGR Syndrome

A

11p13 = WAGR sndrome
Wilm’s tumor
aniridia
GU
MR

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31
Q

Rubenstein-Taybi

A

16p13.3 deletion - cardiac (PDA, VSD), broad thumbs and toes, downward slanting palpebral fissures, hypoplastic maxilla, hirsutism, hypotonia, DD

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32
Q

How does a PCR work

A

amplifies specific DNA sequence from genomic DNA by using two primers on either side of sequence of interest; DNA is denatured, hybridized with specific primers flanking area of interest, and then extended

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33
Q

Holt-Oram syndrome

A

cardiac (ASD), upper limb defects, absent/hypoplastic thumbs, narrow shoulders, hypertelorism

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34
Q

Thanatophoric dysplasia

A

AD - FGFR3 (same as achondroplasia)- telephone receiver curved long bones, flat vertebral bodies
recurrence risk is same as baseline population risk bc new mutation leads to skeletal dysplasia

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35
Q

Trisomy 18

A

cardiac, clenched hands with overlapping digits, rocker bottom feet, single UA, short sternum

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36
Q

Trisomy 13

A

midline abnormalties (cardiac), cutis aplasia, polydactyl, narrow hyperconvex fingernails, cleft lip/palate, holoprosencephaly

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37
Q

Rapid degradation of misfolded protein = ________
Mislocalization of misfolded protein, accumulation and toxicity = _______

A

Rapid degradation of misfolded protein = CF, PKU
Mislocalization of misfolded protein, accumulation and toxicity - A1At, SCD, Gaucher dz

38
Q

What is 2nd most common cause of mental deficiency after T21

A

Fragile X (X-linked dominant)

39
Q

Cell-free DNA originates from _____

A

Placenta
Continuous turnover of vilous trophoblast results in shedding of apoptoci material containing cell-free DNA in maternal circulation

40
Q

Likelihood of second anomaly in infant with prenatal dx of clubfoot

A

60%

41
Q

Mosaic Turner’s syndrome puts you at increased risk of

A

gonadoblastoma

42
Q

Enhancer

A

sequences that bind transcription factors that affect recruitment of RNA polymerase. Cis-acting, on same strand of DNA but can often be located at significant distance from coding region of gene

43
Q

Leigh syndrome

A

mitochondrial d/o with progressive neurodegenerative dz

44
Q

Cystic fibrosis cause

A

caused by point mutation in CFTR gene, problem with DNA polymerase

45
Q

Triploidy can signify _____

A

placentomegaly

46
Q

amniotic band syndrome is a form of

A

direct disruption of developing tissue

47
Q

Prevalence of minor congenital anomalies

A

20%

48
Q

Legius syndrome

A

6 or more cafe au lait macules; axillary or inguinal freckling; macrocephaly, learning disability. overlapping with NF-1

49
Q

McCune Albright - gene?

A

large cafe au lait macules, coast of maine, lines of blaschko. precocious puberty. GNAS1 gene

50
Q

Steroids for infantile hemangiomas are useful during what stage

A

Proliferative

51
Q

Listeria - cutaneous findings are common in early or late dz?

A

Early - present at birth. white plaques on umbilical cord

52
Q

Bifid ribs

A

usually unilateral, asymptomatic

53
Q

Enhancers and promotors

A

noncoding regulatory DNA sequences and can BOTH bind transcription factors. Enhancers can act from a distance (promoters are always located in close proximity)

54
Q

Angelman syndrome is caused by a contiguous gene disorder. what does that mean

A

deletion of multiple genes that are adjacent to one another

55
Q

Syndactyly

A

most common type of congeital abnormality of UE, failure of separation of two fingers 5-8 weeks GA; sporadic, usually no genetic transmission

56
Q

Under histology - IP vs Varicella/herpes

A

eosinophils, giant cells respectively

57
Q

High humidity isolates carry risk of colonization with

A

pathogenic bacteria

58
Q

Epidermolysis bullosa

A

inherited mechanobollous disorder characterized by development of blisters after skin is exposed to mild friction or trauma. Can be simplex, junctional, or dystrophic

Tx: supportive care

59
Q

Difference between EB simplex, junctional, and dystrophic

A

simplex = superficial above basal cell layer of epidermis (AD), no scarring
junctional - junction of epidermis an dermis (AR), yes scarring
Dystrophic - bullae are dep within upper portion of dermis, AD and AR; disfiguring scarring

60
Q

Cutis aplasia syndromes, inheritance

A

autosomal dominant
T13 or 4p syndrome

61
Q

How to culture SSSS

A

nasopharynx; fluid of lesions is sterile

62
Q

Major criteria for CHARGE

A

Coloboma, Choanal Atresia, CN dysfunction, characteristic ear

63
Q

What is collodion membrane

A

membrane is a thickened stratum corneum that swells from amniotic fluid exposure. The tightened membrane around the infant causes ectropion (eversion of the lower eyelids), eclabion (eversion of the lips), and may lead to sausage-like swelling of the digits

significant risk for hypothermia, hypernatremic dehydration, and infection

nonbullous congenital ichthyosiform erythroderma

64
Q

Describe Becker’s Nevus vs Epidermal nevus

A

Becker’s nevus - flat, hyperpigmented patch at birth
Epidermal nevus - wart-like lesion, linear, on limbs / trunk / scalp. Associated with skeletal defects, ocular complications, CNS

65
Q

Apert syndrome? What is similar to it?

A

Apert syndrome - FGFR2 gene, craniosynostosis, VSD, pulmonary stenosis, overriding aorta
Apert and Crouzon are similar

66
Q

Genes for TS and NF

A

TS - chromsome 9/16
NF - Chromosome 17

67
Q

Bohn nodules vs epulis vs radula

A

bohn nodules - kind of like Epstein pearls, but on maxillary alveolar ridge (Ebstein’s pearls on hard palate)
Epulis - single, soft pedunculate nodule her gingiva of anterior maxillary ridge
Ranula - translucent lesion from floor of mouth (blue)

68
Q

What causes skeletal dysplasia vs dysostoses

A

Skeletal dysplasia - abnormal organization of cells during early patterning events of skeletal development

Dysostoses - malformations of bones as result of insult during organogenesis

69
Q

Southern vs Northern blot

A

Southern blot: DNA probe to DNA fragment
Northern: DNA probe to RNA fragment

70
Q

Genes for OI, achondroplasia, Stickler, Ellis-van Creveld, Jeune

A

OI - COL1A
Thanatophoric / achondroplasia - FGFR3
Stickler - COL2A
Ellis-van Creveld - EVC1, 2
Jeune - IFT80

71
Q

Who do you get extra chromosome for trisomies from?

A

Mom!

72
Q

Preterm vs term skin differences (melanosomes, sweat glands)

A

Preterm have 1/3 amount of melanosomes compared to term (photosensitivity)
Eccrine / sweat glands < 30 weeks are nonfunctional; term infants have decreased activity for first week
Preterm has fewer # collagen elastic fibers

73
Q

What are linkage studies

A

Linkage studies provide an indirect method to diagnose genetic diseases.
This analysis uses loci that are located near each other on the same chromosome or “linked” to determine if an individual has inherited a chromosome containing a disease gene. DNA polymorphisms can be used as markers. These loci are physically linked, but may not be functionally related.

74
Q

Genes for WAGR, BWS, Rubenstin-taybi, Williams syndrome

A

11p13 = WAGR syndrome
11p15 = BWS
16p13.3 = rubenstein-taybi anomalies - cardiac (patent ductus arteriosus, ventricular septal defect, atrial septal defect), broad thumbs and toes, downward slanting of palpebral fissures, hypoplastic maxilla, hirsutism, hypotonia, and developmental delay.

Williams syndrome (chromosome 7)- hypoplastic nails, prominent lips, hoarse voice, stellate iris pattern, entail deficiency, renal anomalies, transient hypercalcemia, supravalvular aortic stenosis

75
Q

Smith Lemli Opitz Syndrome

A

autosomal recessive
elevated 7 deoxycholesterol

76
Q

What cardiac anomalies in DiGeorge?

A

conotruncal = iAA, TA, TOF
Thymus and parathyroid glands are from 3rd-4th pharyngeal pouch

77
Q

Advanced paternal age and genetic risks?

A

increased risk of NEW gene mutations (Achondroplasia, Apert, Crouton, NF I, OI, RB, Thanatophoric dysplasia, Pfeiffer syndrome)

78
Q

PCR vs FISH

A

PCR - amplify specific DNA sequence from genomic DNA by using primers on either side of sequence of interest

FISH - expose cells to single-stranded DNA probe tagged with fluorescent marker and allowing for hybridization

79
Q

Holt-Oram Syndrome?

A

AD, variable expression - Heart + hand (hypo plastic or abnormally shaped thumbs, narrow shoulders hypertelorism)

80
Q

Genetic inheritance of achondroplasia / thanatophoric dysplasia

A

80% de novo mutation, rest are inherited AD. Both are FGFR3

81
Q

Features of T13

A

midline defects, heart, cutis aplasia, holoprosencephaly, cleft lip/palate

82
Q

Risk of clubfoot with other anomalies?

A

60%

83
Q

What are you at risk of with mosaic turner?

A

Gonadoblastoma

84
Q

What is the promoter region / poly-A tail / Enhancer

A

Promoter region - where RNA polymerase and TF bind to initiate transcription
poly-A tail - mRNA transport and stability
Enhancer - bind TF that affect recruitment of RNA polymerase

85
Q

What is Leigh Syndrome

A

mitochondrial
progressive neurodegenerative disease

86
Q

What is Legius syndrome (what is similar to?)

A

6 or more cafe au last, no other stigmata of NF-1; AD; SPRED1 gene; mild DD
NF-2 - acoustic neuromas

87
Q

Derm findings of early-onset Listeria

A

skin lesions presents at birth, white plaques on umbilical cord
Skin findings don’t happen in late onset dz

88
Q

Bullous pemphigoid vs pemphigus syphiliticum vs bulbous impetigo vs SSSS vs EB

A

Bullous pemphigoid - AI, ab against BP antigen. Tense blisters on hands and feet. IgG and C3 on basement membrane on immunofluorescent staining

Pemphigus syphilitcum - congenital syphilis, early onset dz

Bullous impetigo - gram stain / culture of fluid , first two weeks life

SSSS - sterile bullae

Epidermolysis bullosa - 4 types - simplex, junctional dystrophic, mixed
- Immunofluorescence and electron microscopy
5 + 2 = type 7 collagen

BP is characterized by autoantibodies directed against the NC16A domain of collagen XVII, whereas patients with epidermolysis bullosa acquisita have autoantibodies against the NC1 domain of type VII collagen.

89
Q

What syndrome associated with bifid ribs?

A

Gorlin Goltz

90
Q

What do you see on histology for incontinentia pigmenti?

A

eosinophils; same as E-Tox

91
Q

Inheritance of EB simplex, junctional, dystrophic

A

AD, AR, AR+AD

Nicu Brodsky+Pediatrix+NeoReview Questions (14 decks)

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