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peds > genetic influences on health > Flashcards

genetic influences on health Flashcards

1
Q

does the ovum or sperm head contain mitochondria

A

ovum

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2
Q

3 constitutive proteins

A

-globins
-dystrophin
-coagulation factors 8 and 9

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3
Q

constitutive protein: globin:
-mutated purpose
-resulting disorder

A

altered oxygen transport
-disorder: sickle cell, thalassemia

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4
Q

constitutive protein: dystrophin
-mutated purpose
-resulting disorder

A

muscle cell defect
-disorder: muscular dystrophies

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5
Q

constitutive protein: coagulation factors 8 and 9
-mutated purpose
-resulting disorder

A

abnormal clotting activity
-disorder: hemophilia type a and b

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6
Q

4 enzymes

A

-phenylalanine hydroxylase
-(hexA)
-HGPRT
-HMG-CoA reductase

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7
Q

enzyme: phenylalanine
-mutated purpose
-resulting disorder

A

interrupted metabolism, accumulation of toxic precursors
-disorder: phenylketonuria

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8
Q

enzyme: hexA
-mutated purpose
-resulting disorder

A

interrupted metabolism, accumulation of precursors
-disorder: tay-sachs disease

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9
Q

enzyme: HGPRT
-mutated purpose
-resulting disorder

A

disruption of metabolism, accumulation of uric acid
-disorder: lesch-nyhan syndrome

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10
Q

enzyme: HMG-CoA reductase
-mutated purpose
-resulting disorder

A

disruption of metabolism, accumulation of cholesterol
-disorder: familial hypercholesteremia

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11
Q

3 disorders caused by hereditary and environmental causes

A

-cancer
-single gene disorders (PKU)
-anomalies from prenatal environmental causes (amputation, cleft lip and palate)

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12
Q

examples minor anomolies

A

sacral dimple
extra nipple
cafe au lait spot

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13
Q

example of congenital anomaly that occurred in isolation

A

congenital heart defect

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14
Q

congenital anomalies: syndromes (2)

A

fetal alcohol syndrome
downs syndrome

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15
Q

congenital anomaly: association

A

VACTERL association

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16
Q

congenital anomaly: sequence

A

pierre robin

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17
Q

2 categories chromosome disorders

A

-structural abnormality: loss, addition, rearrangement, exchange; error in cell division
-numeric chromosome abnormality: entire chromosomes are added/deleted

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18
Q

uniform addition of chromosomes to all original pairs

A

euploidy

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19
Q

one chromosome is added/lost from one pair of chromosomes (not all)

A

aneuploidy

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20
Q

trisomy 21

A

down syndrome

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21
Q

trisomy 18

A

edwards syndrome

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22
Q

trisomy 13

A

patau syndrome

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23
Q

need to know specific chart of chromosomal genetic disorders??

A
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24
Q

what increases risk of development of trisomy 21

A

increased maternal age

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25
Q

S+S down syndrome

A

-delayed mental and social development
-impulsive behavior
-poor judgment
-short attention span
-slow learning

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26
Q

2 rare types down syndrome

A

-translocation down syndrome
-mosaic down syndrome

27
Q

S+S edwards syndrome (trisomy 18)

A

-severe cognitive impairment
-short lifespan
-small mouth and jaw
-short neck
-prominent occiput
-malformed ears
-clenched hands with overlapping fingers
-flexed big toes, prominent heels
-short and prominent chest, wideset nipples

28
Q

S+S patau syndrome (trisomy 13)

A

-short life span
-cleft lip/palate
-scalp defects
-low set ears
-severe mental retardation
-small eyes, head, jaw
-*brain, heart, kidney defects

29
Q

3 sex chromosome aneuploidies

A

-47 XXY: klinefelter syndrome
-45 X0: turner syndrome
-47 XXX: triple x syndrome

30
Q

S+S klinefelter syndrome (47 XXY)

A

-gynecomastia
-hypogonadism
-normal mental development
-tall
-osteoporosis

31
Q

S+S turner syndrome (45 X0)

A

-clinical manifestations variable
-verbal IQ exceeds performance IQ
-girls usually infertile (no menstruation)
-no pre-pubertal growth spurt
-growth normal until 3 yo (short)
-brown spots
-folds of skin on neck (webbed look)

32
Q

S+S triple x syndrome (47 XXX)

A

-normal appearance
-increased risk learning disabilities
-delayed menarche and premature menopause
-taller than average
-weak muscle tone
-behavioral and emotional difficulties

33
Q

2 structural chromosome abnormalities

A

-46 XX(del 5p) or 46 XY(del 5p): cri du chat
-fragile x syndrome

34
Q

S+S cri du chat (46 XX-del5p or 46 XY-del5p)

A

-moon shaped face
-wide set, downward slanted eyes
-profound cognitive impairment
-many die in infancy
-cry sounds like cat
-improves with age
-low birth weight, slow growth
-single line on palm of hand
-small head, small jaw
-skin tags in front of ear

35
Q

S+S fragile x chromosome

A

-prominent/long ears
-long face
-delayed speech
-large testes
-hyperactivity
-gross motor delays
-autistic spectrum disorder

36
Q

achondroplasia

A

dwarfism

37
Q

marfans

A

really tall
heart and eye issues

38
Q

huntington disease

A

causes movement, thinking, and psych problems
resembles dementia but in 30s/40s

39
Q

rare genetic disorder that primarily affects growth of nerve cell tissue. causes nerve tumors and skin and bone change. caused by gene mutations on chromosome 17

A

neurofibromatosis (NF)

40
Q

when do symptoms of neurofibromatosis show up

A

usually at birth, definitely by 10 yo

41
Q

diagnostic criteria for neurofibromatosis (NF-1 and 2)

A

NF-1 (must have 2+):
->6 cafe au lait spots
->2 neurofibromas
-inguinal/axillary freckles
-optic glioma
->2 lisch nodules
-sphenoid dysplasia
-1st degree relative

NF-2:
bilateral 8th nerve masses or 2 of following:
-neurofibroma
-meningioma
-glioma
-schwannoma
-juvenile cataract

42
Q

general S+S neurofibromatosis

A

-scoliosis
-cafe au lait spots
-bone deformities, break easily
-high BP

43
Q

one whose phenotypic expression occurs only when both genes have disease associated mutations

A

recessive allele

44
Q

one who doesn’t have the disease but is a carrier

A

heterozygous carrier

45
Q

examples of diseases from autosomal recessive inheritance (3)

A

-sickle cell
-cystic fibrosis
-tay-sachs disease

46
Q

do males or females have symptoms of x-linked recessive disorders
are males or females carriers

A

symptoms: males
carriers: females

47
Q

examples x-linked recessive disorders (2)

A

-hemophilia a and b
-duchenne muscular dystrophy

48
Q

do males or females have symptoms of x-linked dominant disorders

A

both

49
Q

examples x-linked dominant disorders (2)

A

-hypophosphatemic vit D resistant rickets
-incontinentia pigmenti

50
Q

indications for prenatal genetic testing: general risk factors

A

-maternal age 35+ at time of delivery
-maternal age 31+ if having twins
-elevated or low trisomy profile screen results

51
Q

indications for prenatal genetic testing: specific risk factors

A

-previous child with defect/chromosomal anomaly
-previous stillbirth/neonatal death
-structural abnormality in mother/father
-balanced translocation in mother/father
-inherited disorders
-medical disease in mother (DM, PKU)
-exposure to teratogen
-infection (rubella, toxoplasmosis, CMV)
-abnormal ultrasound findings

52
Q

what ethnic groups are more likely to develop tay-sachs disease (2)

A

-jewish
-french canadian

53
Q

what ethnic groups are more likely to develop sickle cell anemia (5)

A

-black african
-mediterranean
-arab
-indian
-pakistani

54
Q

what ethnic groups are more likely to develop a and b thalassemia (3)

A

-mediterranean
-southern and southeast asian
-chinese

55
Q

assessment clues to genetic disorders: growth abnormalities

A

-short stature
-overgrowth
-asymmetrical growth
-IUGR

56
Q

assessment clues to genetic disorders: skeletal

A

-limb abnormalities
-asymmetry
-scoliosis
-hyperflexibility
-hypotonic/hypertonic muscle tone
-pectus excavatum
-finger/joint abnormalities

57
Q

assessment clues to genetic disorders: visual/hearing

A

-coloboma of iris
-hearing loss
-cataracts

58
Q

assessment clues to genetic disorders: metabolic

A

unusual odor of:
-breath
-urine
-stool

59
Q

assessment clues to genetic disorders: sexual development

A

-ambiguous genitalia
-micropenis
-delayed onset puberty
-primary amenorrhea
-precocious puberty
-large testicles

60
Q

assessment clues to genetic disorders: skin

A

-unusual pigmentation (cafe au lait, vitiligo)
-dry and scaly skin
-skin tumors
-hyperextensible skin

61
Q

assessment clues to genetic disorders: recurrent infection/immunodeficiency

A

-ear infection
-pneumonia
-poor healing umbilicus

62
Q

assessment clues to genetic disorders: cognitive

A

-learning disabilities
-mild to severe cognitive impairment

63
Q

assessment clues to genetic disorders: behavioral

A

-attention deficit with or without hyperactivity
-autistic behavior
-aggressive behavior

64
Q

assessment clues to genetic disorders: major/minor birth defects and dysmorphic features

A

-cardiac defect
-ear/eye abnormalities
-micrognathia
-forehead prominence
-hairline low on forehead or nape of neck
-wide set eyes
-epicanthal folds
-low set/abnormal ears

peds (28 decks)

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