Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

year 2 > peds: genetics > Flashcards

peds: genetics Flashcards

0
Q

chromosome nomenclature

A

total #, XX (or XY) del(+) (# ) (r(q)#)
r/q # is the band on that chromosome

eg
46XXdel(14)(r23)

47XY +21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

chromosome structure
cells contains ___ chromosomes (___ pairs)
structure
p & q arms

A
  1. cells contain 46 chromosomes, 23 pairs
  2. pair of chromatid, joined by centromere
  3. p short arm on top
    q long arm on bottom
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

types of structural abnormalities (4)

A
  1. deletions: portion of or entire chromosome missing
  2. duplications: a portion of chromosome is duplicated => extra genetic material
  3. translocations: a portion of 1 chromosome is transferred to another
  4. inversions: a portion of chromosome has broken off, inverted and reattached => inverted genetic material
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

numerical abnormalities
sciency word
and sciencey word for too many and too few

A

aneuploidy= wrong # of chromosomes

monosomy = missing a chrom
trisomy = an extra one in the pair
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

global developmental delay (GDD) def

A

delay in achieving 2 or more developmental milestones; motor, speech, cognition, social or emotional

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q 
non-disjunction error
 def and when does it occur in cell reproduction
 type of chromosomal abnormality
A

def: when entire chromosome or sister chromatids dont separate and => different cells; occurs most commonly in older cells during meiosis or mitosis

=> numerical abnormality

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

autosomal trisomy
type of error
associated with…
most common disease (2)

A

non-disjunction error
associated with advanced maternal age

#1= trisomy 21 = downs syndrome
trisomy 18 = edwards syndrome
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

2 most common sex chromosome aneuploidys

cause

A
  1. turners syndrome = 45X
    female missing part or all of an X chrosome
  2. Kleinfelter Syndrome = 47XXY
    male has an extra X chromosome

these are both caused by non-disjunction errors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Turners syndrome
chromosome name
some of the most common symptoms (5)
dysmorphic features

A

45X

dysmorphic features short webbed neck, puffy hands and feet, short stature

  1. usually 1 kidney => can’t play contact sports*
  2. hypothyroidism => delayed growth (usually short)
  3. lack estrogen => absent sexual develoment and osteoporosis
  4. frequent middle ear infections* => developmental delays
  5. visual spatial defects
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Kleinfelter syndrome
chromosomal name
3 symptoms

A

47XXY

  1. learning disabilities
  2. frequent inner ear infections => speech and language delay
  3. poor coordination
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

4 most common diseases associated with structural abnormalities

A
  1. Cri-du-chat - deletion chromosome 7
  2. williams syndrome - deletion chrom 7
  3. prader willi syndrome - deletion chrom 15
  4. angelman syndrome - deletion chrom 15
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Cri-du- chat symptoms (7)

and dysmorphic features

A

caused by du novo deletion of chrom 7

  1. cat like cry*
  2. hypotonia & low birth weight; failure to thrive
  3. MR mod -> severe; microcephaly
  4. stabismum
  5. self injurious
  6. scolosis
  7. congenital heart defects

dysmorphic features: large mouth & microcephaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Prader - Willi syndrome
common symptoms (7)
dysmorphic features

A

from du Novo deletion chrom 15

  1. respiratory difficulties
  2. poor suck/swallow reflex at birth => failure to thrive and later children become obese and obsessed with food
  3. sleep apnea => day time drowsniess
  4. low -> mod MR; GDD
  5. strabismus
  6. poor motor coordination
  7. behavioral issues; stubborn, tantrums, physical agression

dysmorphic features= short, small hands/feet & narrow face

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

angelman syndrome
cause
common symptoms
dysmorphic features

A

deletion chrom 15 from mother

symptoms:
1. seizures starting at 2-3
2. tremors
3. hypotonia/ GDD
4. expressive language more impaired than receptive => use sign language
5. wide base ataxic gait with jerky movements
6. ADD/ADHD
7. inappropriate happy affect with episodes of laughing** tell tale sign*
this is how you know its not autism

dysmorphic features; microcephaly & large mouth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Williams syndrome
cause
symptoms (5)

A

deletion chromosome 7

  1. CV disease* => HTN (so be aware when exercising)
  2. RU fused => limited pro/supination
  3. mild cognitive impairment => ADHD
  4. delay with speech/ fine & gross motor skills
  5. visual spatial difficulties
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

4 types of single gene disorders

A
  1. autosomal dominant; only need one parent to have
  2. autosomal recessive; both parents must have gene but usually no family Hx
  3. X-linked recessive; female carries, but only males affected
  4. mitochondrial disorders
16
Q

3 examples of autosomal dominant disorders

A
  1. osteogenesis imperfecta
  2. congenital myotonic dystrophy
  3. neurofibromatosis (NF1)
17
Q

NF1 von recklinghausen
pathophysiology (2)
signs (1)
symptoms (7)

A

(neurofibromatosis)

  1. gene which encodes neurofibromin, which is a tumor supressor by keeping cells from growing or diving too rapidly
  2. mutations of this gene => tumors all over body

signs: cafe au lait spots on skin, >6 or larger than a quarter

symptoms:

  1. skeletal abnormalities, short with scolosis & long bone nonunion
  2. decreased bone mineral density => cant do contact sports
  3. optic glioma => vision loss by age 4
  4. pectus excavatum
  5. learning disabilites, ADHD
  6. poor coordination & clumsy
  7. hypotonia
18
Q

biochemical disorders def (2)

A
  1. metabolism errors caused by metabolic enzyme deficiencies

2. enzyme absent or not working properly => neuromotor / musculoskeletal deficits

19
Q

2 biochemical disorders

A
  1. phenylketonuria - part of newborn screen, looks for elevated metabolites
  2. lysosomal storage disease => accumulation of undegraded materials in lysosome
    eg tay-sachs & gauchers
20
Q

2 examples of X-linked recessive disease

A
  1. hemophilia

2. duchenne muscular dystrophy

21
Q

X-linked dominant

2 diseases

A
  1. fragile-X

2. Rhetts syndrome

22
Q

fragile X syndrome
pathophys
symptoms (6)

A

mutation on FMR1 gene on X chromosome => doesn’t synthesize chemical needed for proper brain development

symptoms

  1. GDD by 2 years
  2. intellectual disability
  3. autism spectrum
  4. SZ
  5. poor coordination, balance, motor planning
  6. hyperextensible joints
23
Q 
Rhetts syndrome
 pathophys
 dx
 who it affects
 symptoms
 rhetts vs. autism
A

mutations on MeCP2 gene on X chromosome which regulated proteins involved with brain development

dx is a blood test

almost exclusively affects females

development is normal in early infancy until the MeCP2 regulation is needed, then develop backwards

often misdiagnosed for autism but these girls are more interested in people than objects

24
Q

Rhetts diagnostic criteria (3)

A
  1. normal development until 6-18m
  2. slowing of head growth rate at 2-4 months (=> MR)
  3. gait abnormalities & sterotypic hand movements*- ringing hands
25
Q 
rhetts syndrome stages I-IV
 symptoms & ages at each stage
 life expectancy
 stage I 
 stage II (4)
 stage III (4)
 stage IV (5)
A

stage I- 6-18 months
subtle slowing of development & less eye contact

stage II = rapid loss of acquired skills, ages 1-4

  1. autistic behaviors; loss of spoken language and social skills
  2. hand wringing
  3. slow head growth => microcephaly (and MR)
  4. gait abnormalities wide BOS, ataxic & toe walking

stage III = plateau; pre-school - school age (2-1)
how most girls stay the rest of their lives
1. SZ
2. apraxia (=> motor difficulties)
3. hyperventilation & breath holding
4. communication skills may improve

stage IV = motor deterioration

  1. reduced mobility
  2. muscle weakness
  3. rigid spasticiy dystonia
  4. NM scolosis
  5. osteoporosis risk

life expectancy ~4-

26
Q

mitochondrial disorders
pathophys
who we get them from and why
parts that are most affected (2) & why

A
  1. alteration in mitochondrial DNA fragments inherited from mother
  2. only from mother because zygote gets all of its mitochondria from the egg
  3. CNS and muscle affected because of large amts of mitochondria in tissue
27
Q

clinical features of mitochondrial disorders (4)

A
  1. myopathies of general weakness & decreased balance
  2. exercise intolerance
  3. encephalopathy
  4. retinal degeneration
28
Q

multifactorial disorders
def
2 examples

A
  1. combination of genetic and environmental factors

eg

  1. birth defects = cleft palate
  2. adult onset = cancer
29
Q

4 diseases pectus excavatum is associated with

A
  1. MVP (mitral valve prolapse)
  2. scolosis
  3. marfans
  4. NF1 von Recklinghausen
30
Q

4 diseases (or categories) hypotonia is associated with

A
  1. genetic syndromes (eg downs syndrome)
  2. neurological diseases (eg CP)
  3. metabolic diseases
  4. endocrine disorders
31
Q

3 characteristics of failure to thrive

A
  1. weight < 3rd-5th % for age
  2. progressive loss of weight to <3rd-5th %
  3. decrease in % for height & weight in short amt of time

year 2 (24 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions