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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
S+S down syndrome
-delayed mental and social development -impulsive behavior -poor judgment -short attention span -slow learning
26
2 rare types down syndrome
-translocation down syndrome -mosaic down syndrome
27
S+S edwards syndrome (trisomy 18)
-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
S+S patau syndrome (trisomy 13)
-short life span -cleft lip/palate -scalp defects -low set ears -severe mental retardation -small eyes, head, jaw -*brain, heart, kidney defects
29
3 sex chromosome aneuploidies
-47 XXY: klinefelter syndrome -45 X0: turner syndrome -47 XXX: triple x syndrome
30
S+S klinefelter syndrome (47 XXY)
-gynecomastia -hypogonadism -normal mental development -tall -osteoporosis
31
S+S turner syndrome (45 X0)
-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
S+S triple x syndrome (47 XXX)
-normal appearance -increased risk learning disabilities -delayed menarche and premature menopause -taller than average -weak muscle tone -behavioral and emotional difficulties
33
2 structural chromosome abnormalities
-46 XX(del 5p) or 46 XY(del 5p): cri du chat -fragile x syndrome
34
S+S cri du chat (46 XX-del5p or 46 XY-del5p)
-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
S+S fragile x chromosome
-prominent/long ears -long face -delayed speech -large testes -hyperactivity -gross motor delays -autistic spectrum disorder
36
achondroplasia
dwarfism
37
marfans
really tall heart and eye issues
38
huntington disease
causes movement, thinking, and psych problems resembles dementia but in 30s/40s
39
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
neurofibromatosis (NF)
40
when do symptoms of neurofibromatosis show up
usually at birth, definitely by 10 yo
41
diagnostic criteria for neurofibromatosis (NF-1 and 2)
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
general S+S neurofibromatosis
-scoliosis -cafe au lait spots -bone deformities, break easily -high BP
43
one whose phenotypic expression occurs only when both genes have disease associated mutations
recessive allele
44
one who doesn't have the disease but is a carrier
heterozygous carrier
45
examples of diseases from autosomal recessive inheritance (3)
-sickle cell -cystic fibrosis -tay-sachs disease
46
do males or females have symptoms of x-linked recessive disorders are males or females carriers
symptoms: males carriers: females
47
examples x-linked recessive disorders (2)
-hemophilia a and b -duchenne muscular dystrophy
48
do males or females have symptoms of x-linked dominant disorders
both
49
examples x-linked dominant disorders (2)
-hypophosphatemic vit D resistant rickets -incontinentia pigmenti
50
indications for prenatal genetic testing: general risk factors
-maternal age 35+ at time of delivery -maternal age 31+ if having twins -elevated or low trisomy profile screen results
51
indications for prenatal genetic testing: specific risk factors
-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
what ethnic groups are more likely to develop tay-sachs disease (2)
-jewish -french canadian
53
what ethnic groups are more likely to develop sickle cell anemia (5)
-black african -mediterranean -arab -indian -pakistani
54
what ethnic groups are more likely to develop a and b thalassemia (3)
-mediterranean -southern and southeast asian -chinese
55
assessment clues to genetic disorders: growth abnormalities
-short stature -overgrowth -asymmetrical growth -IUGR
56
assessment clues to genetic disorders: skeletal
-limb abnormalities -asymmetry -scoliosis -hyperflexibility -hypotonic/hypertonic muscle tone -pectus excavatum -finger/joint abnormalities
57
assessment clues to genetic disorders: visual/hearing
-coloboma of iris -hearing loss -cataracts
58
assessment clues to genetic disorders: metabolic
unusual odor of: -breath -urine -stool
59
assessment clues to genetic disorders: sexual development
-ambiguous genitalia -micropenis -delayed onset puberty -primary amenorrhea -precocious puberty -large testicles
60
assessment clues to genetic disorders: skin
-unusual pigmentation (cafe au lait, vitiligo) -dry and scaly skin -skin tumors -hyperextensible skin
61
assessment clues to genetic disorders: recurrent infection/immunodeficiency
-ear infection -pneumonia -poor healing umbilicus
62
assessment clues to genetic disorders: cognitive
-learning disabilities -mild to severe cognitive impairment
63
assessment clues to genetic disorders: behavioral
-attention deficit with or without hyperactivity -autistic behavior -aggressive behavior
64
assessment clues to genetic disorders: major/minor birth defects and dysmorphic features
-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

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