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From Flashcardlet > Peds- Genetics > Flashcards

Peds- Genetics Flashcards

1
Q

Quadruple screen

A 
alpha-fetoprotein (AFP)- high in neural tube defects, skin disruptions (omphalocele); low in trisomies 21, 18, 13 (50% sensitive)
unconjugated estriol (ue3/ E3)
inhibin A
human chorionic gonadotropin (hCG)
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2
Q

When the quadruple screens are used together what do they detect?

A

80% sensitive for 3 trisomies:
trisomy 21- low E3 & AFP, high hCG
trisomy 18- all low
trisomy 13

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3
Q

Genetic Screening Tools

A

fetal ULS
amniocentesis
chorionic villus sampling

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4
Q

Genetic Testing

A

karyotype
fluorescent in-situ hybridization (FISH)
polymerase chaine reaction
direct enzyme testing (fibroblasts)

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5
Q

Karyotype

A

chromosomes of cultured cells viewed directly

allows counting & visualization of gross defects

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6
Q

FISH

A

fluorescent probe seeks out known defects

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7
Q

PCR

A

allows direct analysis of a gene

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8
Q

MC sex chromosome abnormality?

A

Kleinfelter’s (~1:500)

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9
Q

MC autosomal chromosome abnormality?

A

Down Syndrome (~1:600)

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10
Q

Aneuploidies

A

monosomies
triploidies
elimination or duplication of sex chrom

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11
Q

Triple repeat expansions

A

threaten chromosomal stability

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12
Q

Specific Aneuploidies

A

Down Syndrome
Trisomies 18 & 13
Keinfelter syndrome
Turner syndrome

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13
Q

Down Syndrome head & neck characteristics

A 
small, brachycephalic head
upslanting palpegral fissures
epicanthal folds
flat nasal bridge
small, folded/dysplastic ears
midface hypoplasia
protruding tongue
short neck
excessive skin at nape of neck
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14
Q

Down syndrome extremities characteristics

A 
short broad hands
hypoplastic middle phalanx of 5th finger
incurved 5th finger
transvers palmar crease
space between 1st & 2nd toes
hyperlexibility of joints
hypotonia
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15
Q

Down Syndrome cardiac characteristics

A

endocardial cushion defect
VSD
ASD

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16
Q

Down syndrome GI characteristics

A

esophageal or duodenal atresia

GERD

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17
Q

Down Syndrome Endocrine characteristics

A

thyroid dysfunction
short stature
DM

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18
Q

Down Syndrome Ortho characteristics

A

atlanto-axial instability

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19
Q

Down Syndrome Hematologic Characteristics

A

leukemoid rxn

increased incidence of leukemia

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20
Q

DS eye characteristics

A

refractive errors
strabismus
nystagmus
cataracts

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21
Q

DS immune characteristics

A

poor chemotaxis

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22
Q

DS other characteristics

A

hearing deficits
obesity
obstructive sleep apnea

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23
Q

Medical mgnt for DS

A 
cardiac eval
hematologic eval
ophthalmologic referral
thyroid function screening
obesity screening
nutritional counseling
dental eval for peridontal dz
annual hearing screening
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24
Q

Turner’s Syndrome

A 
monosome X (XO, or 45,X)
caused by loss of part/all of an X chromosome resulting in monosomy XO
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25
Q

Characteristics of Turner’s syndrome

A 
females 1:2000 (causes ~15% of SAB)
webbed neck
edema of hands & feet, often at birth
short stature
shield chest
triangular facies
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26
Q

Cardiac abnormalites in Turner’s syndrome

A

coarctation of aorta

mitral & aortic valve abnormalities

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27
Q

GYN problems with Turner’s syndrome

A

amenorrhea & infertility (streak ovaries)
ovarian failure
absence of secondary sex characteristics

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28
Q

Frequent types of therapy used in Turner’s Syndrome

A

growth hormones
thyroid hormones
estrogen replacement

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29
Q

Turner’s syndrome general

A

about 1/3 have renal anomalies
obesity, DM, HTN
life expectancy reduced ~10 yrs

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30
Q

Kleinfelter’s syndrome

A

abnormal # of sex chromosomes
47 XXY karyotype
defect in meiosis of paternal/maternal origin
may have further excess X chromosomes

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31
Q

Kleinfelter’s syndrome characteristics

A 
hypogonadism
   small penis, small testes
tall, slim stature
developmental delay
mental retardation
   worsens with increase in X chromosomes
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32
Q

Behavior problems in Keinfelter’s syndrome

A

shyness
poor judgement
unrealistic, boastful activity

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33
Q

Dx & mgnt of Kleinfelter’s syndrome

A

clinical findings- karyotype

tx helpful before puberity- testosterone replacement

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34
Q

Williams Syndrome

A

deletion of allele (7q11.23)

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35
Q

Facial features of Williams Syndrome

A

short palpebral fissures
depressed nasal bridge
long philtrum
blue eyes

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36
Q

Clinical characteristics of Williams syndrome

A 
supravalvular aortic stenosis
motor retardation (tight heel cords)
FTT
IQ 40-80
friendly, loquacious personality "cocktail party" personality
hypersensitive to sound
renal anomalies
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37
Q

Mngt issues of Williams Syndrome

A

infancy- feeding difficulty, constipation
CH- outgoing, possible overly so
adult- HTN, joint limitation

38
Q

DiGeorge Syndrome

A

chromosome 22q11.2 deletion

part of velocardiofacial syndrome

39
Q

What happens in DeGeorge Syndrome

A

defective dev. of 3rd & 4th branchial pouches of embryo (migration of neural crest from head into neck & chest)
malformations of PTH glands, mediastinum, thymus, heart, great vessels

40
Q

Facial features of DeGeorge Syndrome

A 
subtle:
lateral displacement of inner canthi
short palpebral fissures
short philtrum
micrognathia
ear anomalies
41
Q

Clinical characteristics of DiGeorge Syndrome

A 
Congenital heart defects
   aortic arch abnormalities
   tetralogy of Fallot
   VSD
   patent ductus arteriosus
hypocalcemia
renal anomalies
immunodeficiency d/t thymic agenesis/ poor thymus development (cellular immunity)- cannot give live vacs w/o testing immune status
42
Q

Diagnosis & mgnt of DiGeorge Syndrome

A 
FISH to detect chromosome deletion
immune work-up: T & B cell function
cardio work-up
special ed
hypocalcemia- supplement & monitor
43
Q

Triple repeat expansions

A 
fragile X dz
Huntington dz
myotonic dystrophy
Friedreich's ataxia
spinocerebellar ataxia
44
Q

Fragile X syndrome

A

MCC of mental retardation in males
1:1000
unstable CGG repeats in gene FMR-1

45
Q

Typical appearance of Fragile X syndrome

A

oblong facies
large ears
large testicles
macrocephaly

46
Q

Clinical characteristics of fragile X syndrome

A

hyperactive
infantile autism
males > females

47
Q

Diagnosing Fragile X Syndrome

A

X-linked inheritance

males w/ mental/developmental delay of unknown cause are routinely screened by DNA analysis

48
Q

Cystic Fibrosis

A

point mutation of CFTR- chloride channel

1:3300 white

49
Q

Sickle Cell Dz

A

point mutation of B-globin for Hgb

1:500 black

50
Q

Thalassemia

A

mutation causing deficiency of alpha globin or B-globin of Hgb

51
Q

Duchenne’s muscular dystorphy

A

mutation in gene for dystrophin- provides muscle cell structural stability

52
Q

Hemophilia A & B

A

X- linked

affect production of clotting factors VIII & IV

53
Q

Neurofirbromatosis I

A

affects tumor suppressor gene neurofibromin

54
Q

Tay-Sachs dz

A

1:300 heterozygotes

affects breakdown by hexosaminidase A of fatty acid metabolites that accumulate & destroy n. tissue

55
Q

Specific gene anomalies

A 
Angelman syndrome
Prader-Willi syndrome
autosomal dominant polycystic kidney dz
Marfan syndrome
spinal muscular atrophy
56
Q

Angleman Syndrome

A

deletion on chrom 15q11.2

57
Q

Facial features of Angelman Syndrome

A 
microbrachycephaly
blond hair
pale blue eyes
maxillary hypoplasia
deep set eyes
large mouth w/ tongue protrusion
widely spaced teeth
58
Q

Clinical Characteristics of Angelman Syndrome

A 
severe mental retardation
seizure d/o
marked delay in motor milestones
   ataxia, jerky gait (puppet like)
   arms upheld
   hypotonia & hyperreflexia
absent speech
decreased need for sleep
59
Q

Mgnt of Angleman Syndrome

A 
severe speech problems
some may communicate w/ sign language
seizures
   onset at 18-24 months
   most severe 4 yrs
   may stop by 10 yrs

previously known as “happy puppet syndrome”

60
Q

Muscular Dystrophy

A

group of inherited d/o characterized by progressive degeneration of skeletal muscle & dystrophic features on muscle histology

61
Q

Muscular dystrophy epidemiology

A

1:3500 male
X-linked recessive
mutation of dystrophin gene

62
Q

Duchenne’s Muscular Dystrophy presenting sx’s

A

neonate: decreased fetal movements, malpresentation, contractures, respiratory or feeding difficulties
younger toddler: delayed walking, gross motor delays, gait difficulties (waddle or difficulty going up steps)

63
Q

Duchenne’s Muscular Dystrophy physical signs

A 
muscle atrophy, pseudohypertrophy
weakness (esp. proximal muscles)
absent DTR
hypotonia
difficulty arising from floor
     Gower's sign- "climbing up himself"
64
Q

Lab tests for Duchenne’s Muscular Dystrophy

A

elevated serum CK
muscle Bx- histologic findings & immunocytochemistry distinguish subtypes of muscular dystrophy
genetic assays for dystrophin gene mutations

65
Q

Duchenne’s Muscular Dystrophy problems

A 
Progressive weakness
Pulmonary dz
   sleep apnea
   respiratory failure, leading mech. vent
Cardiac dz
   arrhythmias
   CHF
66
Q

Prader-Willi Syndrome

A

lack of expression of imprinted gene located on 15q11.2

67
Q

Typical features of Prader-Willi Syndrome

A 
difficulty feeding as infant
hyperphagia as CH/adolescent
almond-shaped eyes
strabismus
short stature
obesity
hypogenitalism
small hands & feet
68
Q

Dx & mgnt of Prader-Willi Syndrome

A

Dx: FISH fluorescent in situ hybridization

infant: hypotonia, feeding tube
children: GF for short stature (not for obese children), testosterone for hypogonadism in males

69
Q

Non-specific hereditary dz’s

A 
hypertrophic pyloric stenosis
autoimmune dz's
   type I DM
   rheumatoid arthritis
   IBD
   Grave's dz
neural tube defects
atopy (asthma, allergic rhinitis, eczema)
70
Q

Congenital sequelae of injury

A 
Amniotic bands
Hypoxic-ischemic encephalopathy
   cerebral palsy
   mental retardation
   learning disability
Birth trauma
   clavicle fracture
   Bell's palsy (CN VII)
Erb's palsy (brachial plexus)
pneumothorax
71
Q

Definition of deafness

A

either partial or total loss of hearing

72
Q

Sensorineural hearing loss

A

impairment from brain to cochlea

73
Q

Conductive hearing loss

A

impairment from middle ear to external auditory canal
typically mild to moderate
typically overcome by amplification

74
Q

Classifying hearing loss- rated by amplification need

A 
mild- 20 to 40 dB
moderate- 41 to 55 dB
moderately severe- 56 to 70 dB
severe- 71 to 90 dB
profound- >90 dB
75
Q

Risk Factors for Sensorineural hearing loss

A 
FH
meningitis/CNS infxn
ototoxic drug exposure
prematurity
congenital head & neck deformities
pernatal asphyxia
hyperbilirubinemia
low Apgar scores
76
Q

Risk Factors for Conductive hearing loss

A

chronic/ recurrent otitis media w/ effusion
anatomic deformities that affect eustachian tube function
neurodegenerative d/o

77
Q

Hearing screeings

A 
All newborns prior to d/c:
   evoked otoacoustic emissions
   auditory brainstem response
Subjective hearing screen
   parental hx
   language delay
Objective hearing screen
   yearly from 4-6 yo
   years 8, 10, 12, 15, 18
78
Q

Congenital Infections

A 
TORCH infxns
Congenital bacterial infxns
   chorioamnionitis/funisitis
   meningitis
   pneumonia
79
Q

Congenital malformations

A

isolated anatomic abnormalities
non-hereditary congenital dz
developmental disability & special needs
teratogens

80
Q

Midline defects/ holoprosenchephaly

A

not limited to head or CNS

isolated anatomic abnormalities

81
Q

Lissencephaly

A

“smooth brain”

neural migration defect

82
Q

Spina bifida

A 
major rationale for folate
   sacral tufts & pits
   myelomeningocele
   encephalomyelomeningocele
   anencephaly
83
Q

Face, Jaw & Neck deformities

A 
cleft lip & palate
facial n. palsy vs agenesis of orbicularis oris
choanal atresia
coloboma (pupil "bleeds")
ear pit
brachial pouch malformation
Pierre-Robin sequence (micrognathia)
84
Q

Chest & pulmonary abnormalities

A 
complete tracheal ring
laryngomalacia, tracheomalacia, bronchomalacia
tracheal bronchus (pig bronchus)
azygos lobe
pulmonary sequestration
congenital cystadenomatoid malformation
vascular ring/sling
chest wall abnormalities
   pectus excavatum
   pectus carinatum
cervical & lumbar ribs
85
Q

Congenital Heart Dz

A 
situs inversus & intermedius
congenital asplenia/polysplenia
endocardial cushion defects
neural crest migration problems
   velocardiofacial/DiGeorge syndrome, etc
hypoplastic left heart
86
Q

Diaphragmatic hernia

A

predominantly on left

CI to + pressure ventilation

87
Q

Omphalocele

A

extrusion of abdominal contents through umbilical defect, typically encased in a membrane

88
Q

Gastroschisis

A

extrusion of abdominal contents through non-umbilical defect, typically w/o membrane

89
Q

Gut abnormalities

A

tracheo-esophageal (TE) fistula
intestinal atresia/web (esophagus, duodenum, jejunum, etc.)
intestinal malrotation (w/ or w/o midgut volvulus)
meconium plug (suggests cystic fibrosis)
aganglionosis (Hirschsprung’s dz)
anal atresia

90
Q

Abdominal & genitourinary abnormalities

A 
biliary atresia
single kidney/ horseshoe kidney
renal agenesis
bladder exstrophy
hypospadias
undescended testicle
hydrocele
91
Q

extremity malformations

A

club foot (talipes equinus varus)
phocomelia (arm nubs)
syndactyly & polydactyly

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