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PED- TEST 3 > GENETICS-LECTURE > Flashcards

GENETICS-LECTURE Flashcards

1
Q

Chromosome?

A

An organized package of DNA found in the nucleus of the cell
Come in pairs

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2
Q

Humans have how many pairs of chromosomes?

A

23

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3
Q

Genes?

A

Small segment of a chromosome that can be identified with a specific function

A gene is a segment of DNA that determines a trait

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4
Q

Genes?

A
  • Come in pairs on each autosome (1-22)
  • Each copy of the gene is called an allele
  • 2 identical alleles: homozygous
  • If they are different: heterozygous
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5
Q

Each copy of the gene is called an?

A

allele

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6
Q

2 identical alleles=?

A

homozygous

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7
Q

if they are different alleles= ?

A

heterozygous

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8
Q

Aneuploidy?

A

error in cell division resulting in an increased number or a decreased number of chromosomes

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9
Q

Nondisjunction?

A

paired homologous chromosomes do not separate before migrating into the egg or sperm. Creates a gamete with either two copies or no copies of a particular chromosome.

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10
Q

Phenotype?

A

expression of the altered gene in the physical appearance or signs of disease process

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11
Q

Genotype?

A

an individual’s particular set of genes
Multifactorial inheritance: multiple gene alterations along with environmental factors

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12
Q

True or False?

A

Most conditions where there is a monosomy (one chromosome) are incompatible with life

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13
Q

Translocation?

A

occurs when 2 (usually nonhomologous) chromosomes exchange segments of DNA. If it results in the correct amount of material it is called a balanced

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13
Q

Mosaicism?

A

Have separate cell lines with some having the appropriate # of chromosomes and some having altered chromosomes

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14
Q
  • Child of parent with this may have a genetic disorder
A

Translocation

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15
Q

Penetrance?

A

probability that a gene will be expressed phenotypically

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16
Q

New mutation?

A

no family history of the disease
- Is a translocation involved?
- Difficult to calculate future risks

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17
Q

Deletions and duplications?

A

occurs when an unequal crossing over or abnormal segregation causes a chromosome to have a missing segment (deletion) or an additional segment (duplication)
- Cri du chat syndrome (large deletion on chromosome 5)

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18
Q

Deformation?

A

anomalies that represent the normal response of a tissue to an unusual mechanical force
- i.e clubfoot

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19
Q

Disruption: breakdown of previous normal tissue example?

A

Amniotic band syndrome

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20
Q

Homozygous?

A

identical pair of chromosomes

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21
Q

Heterozygous?

A

different chromosomes in a pair

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22
Q

Karyotype? (genetic testing)

A

picture of an individual’s chromosomes, takes about 3 days for results

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23
Q

Chromosome Microarray (CMA) (genetic testing)

A
  • Test for individuals with multiple abnormalities not specific to a well delineated genetic syndrome
  • Determines size, precise breakpoints, gene content
  • Takes about 3-5 weeks to obtain results
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24
Q

FISH? (genetic testing)

A

Fluorescence in situ hybridization: used to detect deletions and duplications of specific genes not visible to the microscope

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25
Q

What does FISH (genetic testing) stand for?

A

F- Fluorescence
I- in
S- situ
H- hybridization

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26
Q

How long does FISH testing take?

A

2 weeks for the results

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27
Q

Normal female karyotype?

A

46XX (females)

Females= XX

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28
Q

Normal male karyotype?

A

or 46XY (males)

Males= XY

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29
Q

What karyotype is Klinefelter’s syndrome?

A

47XXY

46+ 1= 47

& 2 XX+ Y (female= 2 X’s)

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30
Q

Is Klinefelters syndrome?
Monosomy
Trisomy
Normal
Deletion

A

Trisomy: 47XX

47XXY (Klinefelter’s syndrome)

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31
Q

What karyotype is turner syndrome?

A

Monosomy

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32
Q

What karyotype is turner syndrome?

A

45X0

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33
Q

Deletion: 22q-

A

(deletion on the q arm of the 22 chromosome)

34
Q

Ring Chromosome ?

A

Type of genetic alteration depends on which chromosome develops a ring

35
Q

Who is Gregor Mendel?

A

Father of Genetics

36
Q

Autosomal Dominant? *** KNOW

A

The gene is passed on from only 1 parent
The paired gene from the 1 parent would be normal
The parent that passes on the gene mutation does have the disorder

Autosomal chromosomes- chromosomes 1-22

The offspring ?
- 50% will be passed on to the child

examples:
- Huntingtons disease
- Neurofibromatosis
- Marfans
- Dwarfism

37
Q

Autosomal Recessive (AR)? KNOW!!

A
  • Occurs when both copies of an altered gene are present
  • AR conditions are usually more severe & have earlier onset of symptoms
  • Called recessive b/c 2 copies of the gene are necessary to produce the disease (homozygous)
  • One altered gene is inherited from each parent
    Parents are carriers (heterozygous
38
Q

Autosomal Recessive (AR)? KNOW!

A
  • Inheritance of 2 copies of the mutated gene
  • 1 copy from each parent - It is located on 1 of the autosomal chromosomes

Offspring who inherit 1 abnormal gene in the pair are considered to be carriers:
- They can pass the gene to their children BUT they themselves are NOT AFFECTED

39
Q

What are some examples of autosomal recessive?

A
  • cystic fibrosis
  • albinism
  • PKU thalasemmia
  • sickle cell anemia
40
Q

Sex Chromosome of a female?

A

XX

41
Q

Sex Chromosome of a male?

A

XY

42
Q

Early in embryonic development what happens to sex chromosomes?

A

one of the two X chromosomes is randomly and permanently deactivated.

This causes the gamete has?
- one chromosome to contribute to the embryo

43
Q

X- Linked Conditions: KNOW!!

A
  • Conditions that are the result of an altered gene on the X chromosome
  • Females who are carriers have a 50% chance of passing on the altered gene
  • A daughter who receives an altered gene from her mother and an unaltered gene from her father is a carrier, like her mother
  • Sons of mothers with the altered gene have no backup X chromosome so they will develop the disease
  • A male cannot transmit the condition to his sons (because he contributes a Y chromosome
44
Q

X- Linked Conditions

So if the father is affected it has an abnormal X AND the mother is not

A

all the female offspring will inherit the disease

BUT
none of the sons

Because daughters always inherit their father’s X chromosome!!

45
Q

X- Linked Recessive usually occurs in?

A

Males

46
Q

X- Linked Conditions:

If the mother is affected & she has 1 abnormal X & the father is not there is only a ___ % chance that each daughter or son will inherit the disorder

A

50%

BECAUSE mothers have the 2 X chromosomes that they can pass on

47
Q

Sons inherit their fathers ___ chromosome?

A

Y chromosome

48
Q

X- Linked Recessive this pattern is seen in males because males only have 1 X chromosome

(x-linked recessive disorder)

A

A single recessive gene on that X chromosome will the disease

49
Q

The Y chromosome does not contain most of the genetics of the X chromosome which results in

(X- linked recessive disorder)

A

the male not being protected in the X- Linked recessive

50
Q

If the father is affected and has an abnormal X none of his sons will be affected

BUT

A

all the daughters will be carriers

& if the mother is a carrier there is a 50% chance their son will be affected

Daughters have a 50% chance of being a carrier

Females can have X- Linked recessive disorders it is more RARE!

51
Q

What are some examples of X- Linked recessive disorders?

A

1- color blindness
2- hemophilia
3.Duchenne muscular dystrophy
4. night blindness

52
Q

X- Linked Conditions?

A

Y chromosome: has very few genes & alterations of the genes rarely cause health problems, except for infertility because genes contain material that affects spermatogenesis

53
Q

Sex Chromosome abnormalities?

A

48XXYY: extra X chromosome interferes with male sexual development, reducing levels of testosterone
47XXY: Klinefelter’s syndrome
47XXX: tall stature, learning disabilities, birth defects, intellectual disabilities
45X or 45XO: Turner’s syndrome

54
Q

48XXYY (sex chromosome abnormality)

A

extra X chromosome interferes with male sexual development, reducing levels of testosterone

55
Q

47XXY (sex chromosome abnormality)

A

:Klinefelter’s syndrome

56
Q

47XXX (sex chromosome abnormality)

A

tall stature, learning disabilities, birth defects, intellectual disabilities

57
Q

45X or 45XO (sex chromosome abnormality)

A

Turner’s syndrome

58
Q

Genetic Counseling?

A
  • Family to bring detailed medical history and family history for pedigree
  • Appointment may last several hours
  • Multidisciplinary
  • Exam of child & possibly the parents
  • Tests
  • In-depth discussion of condition
59
Q

Genetic Testing?

A
  • Help parents & child understand the implications & limitations of genetic tests
  • Keep in mind that genetic testing affects families

-Not all family members want to know the results

  • Respect each family member’s wishes
  • Inform them that genetic testing is voluntary
  • Some genetic testing may not be covered under insurance & is very expensive
  • Inform parents there may be incidental findings
60
Q

Genetic Testing?

A
  • Anticipate stress and anxiety while awaiting test results
  • Child may harbor resentment against a carrier or affected parent
  • Parental guilt may exist because of inheritance
  • Parents may lower expectations of the child as a result of known genetic disorder
  • They may blame any problem on the disorder
  • Make sure parents understand that the risk of having an affected child occurs with each pregnancy
  • Support parents as they grieve for the “perfect child”
  • Provide written information, support groups
61
Q

Cri du Chat Syndrome?

random mutation & random event that occurs

5
(large deletion on chromosome 5)

A
  • High-pitched cry – sounds like a cat
  • Intellectual disability
  • Delayed development
  • Small head size (microcephaly)
  • Low birth weight
  • Weak muscle tone (hypotonia)
  • Distinctive facial features
  • Widely set eyes (hypertelorism)
  • Low set ears
  • Small jaw
  • Rounded face
  • Possible heart defect
62
Q

Trisomy 21 (Down Syndrome) KNOW!!

A

Most common genetic disorder for genetic disability

**Protocols are now available to detect this genetic disorder

63
Q

Down Syndrome Physical Features?

A

General - short stature, hypotonia, obesity

Head - midface hypoplasia, flattened occiput, microcephaly, fine sparse
hair, alopecia

Eyes – up-slanted palpebral fissures, inner epicanthal folds, Brushfield spots (iris speckling), lens opacity (59%), visual/ocular defects (15-45%)

Ears – small, prominent, low set, overfolding upper helix, small canals, hearing loss (66-75%)

Nose – small with flat nasal bridge

Mouth - open mouth, large protruding fissured tongue, small
hypoplastic teeth with irregular

64
Q

Down syndrome Physical Features?

A

Neck - excess skin at nape, short neck, occasional webbing

Cardiac –Congenital (40-50%) AV canal, VSD, PDA, ASD, tetralogy of Fallot, aberrant subclavian artery

G/I – celiac disease, GI atresia, tracheoesophageal fistula, diverticula

G/U – small penis, chryptorchidism (5-50%)

Extremities - broad hands, short fingers, 5th finger midphalanx hypoplasia (60%)

Simian crease (50%), wide gap between 1st and 2nd toes (96%), joint hyperflexibility

Skin – dry hyperkeratotic skin (75%), cutis marmorata (43%)

Other – seizures, hyperthyroidism, hypothyroidism, Mild-to-moderate mental retardation

65
Q

What are the risks for Down syndrome? Trisomy 21?

A

Maternal age:
Age 30 < 1 in 1,000 chance
Age 35 1 in 400
Age 42 ~ 1 in 60.

http://www.babymed.com/tools/other/down_syndrome/default.aspx

50% of trisomy 21 fetuses spontaneously abort in early pregnancy

66
Q

What are some nursing conditions for trisomy 21?

What are the newborns at risk for? (KNOW)!!

A

Hypotonic, hyperextensibile, poor feeding, mouth breather- large protruding tongue at risk for mouth breathing & causes problems with feeding + provide education***

Atresia of duodenum- at risk for malformation in their gut (blind pouch)

Annular pancreas- pancreas can wrap around the gut & can cause obstruction

Hirschsprung’s Disease- can present with severe constipation or obstruction

Developmental Delay- can use specific growth curves for children to plot - the weight, height & head circumference

  • Developmental delays can also include intellectual delays

Thyroid Disease- common & need to be monitored- newborn screening checked for congenital hypothyroidism - checked several times first year then yearly

Immune Dysfunction- risk for pneumonia is high

Ear Infections- common due to their anatomy @ risk for conductive & sensorineural hearing loss

Musculoskeletal Concerns- these children are smaller & shorter & can have smaller heads BUT also have increased risk for obesity in their teenage years.
- Joint flaccid- they have hypotonic but very-neck can be hyperflexible- between their 1st & 2nd cervical vertebrae - make sure you protect the spinal cord & avoid high risk sports

Malignancies- motor development can take 2 X’s as long - 90% of these children are able to walk by the age of 3 y/o. Leukemia is about 18% > the general population.

Sleep Problems- OSA related to their narrow posterior throat & hypotonia BUT also their large tongue size & enlarged tonsils

Skin/Hair- dry skin, atopic dermatitis, allergic - hair loss & thin hair

ALL DELAYS NEED TO BE REFERRED TO LOCAL INTERVENTIONS SERVICES!

67
Q

Dx for down syndrome?

A

Physical appearance & specific tests

68
Q

Down syndrome

A
  • parents should be informed asap of the diagnosis
  • provide support groups & community supports
69
Q

Trisomy 18 Edwards Syndrome

A
  • can cause spontaneous abortions or stillbirths

characterized by:
- prenatal growth deficiency
- characteristics hand gestures with overriding fingers
- nail hypoplasia
-short sternum
-severe heart defects - internal heart anomalies

70
Q

Trisomy 13- Patau Syndrome

A
  • least common & most severe
  • average survival <3 days

Plan for min intervention:
at the time of delivery
due to length of average survival
end of life care & support
+ education

central apnea common- can cause death few weeks
severe heart defects- can contribute

chance viable past few weeks- severe developmental delay
live to later childhood years rare that this occurs

also true with trisomy 18- difficult to live past 1 year of life

71
Q

Turner Syndrome

A

Affects only females

results when a sex chromosome
(the X chromosome) is missing or
partially missing.

occurs in about 1 in 2,500 newborn girls worldwide

can cause a variety of medical and developmental problems

Short stature (evident by about age 5), lack of pubertal development, amenorrhea, infertility, heart defects, learning disabilities and social adjustment problems.

Treatment: growth hormone therapy, sex hormone replacement therapy.

72
Q

Turner Syndrome (KNOW)

A
  • normal growth 1st 2-3 years of life

BUT children’s growth is affected.

  • These children are not able to menstruate or conceive. They are small in their stature.

*coarctation of the aorta
*hearing loss
*opthalmic issues
*hip dysplasia
* scoliosis

You want to watch their growth- this is a result of an entire X chromosome

73
Q

Turner syndrome is the only disorder?

A

That a child can survive without an entire X

This condition ONLY AFFECTS GIRLS

abnormal meiotic air In the sperm causes this- the girls receive no sex chromosome from the sperm

74
Q

What would be some symptoms of turner syndrome that you would see?

A
  • prematurity
    -feeding difficulty
    -reflux
    -failure to thrive
    -neck webbing
    -shield chest
    -coarctation of the aorta
    -edema of the hands & feet
75
Q

Will women with turner syndrome still remain infertile even after estrogen therapy?

A

Yes, they still will remain infertile

75
Q

What are some nursing interventions for turner syndrome?

A
  • Be patient when child is feeding
    -educate the parents
  • in teens there is a lack of sexual characteristics this can be difficult for teens.
    -assess for hypothyroidism
  • assess for cardiovascular disorders

*** You want to get a baseline echocardiogram - monitor this on a regular basis

The lack of puberty can be treated with estrogen supplements so that the girls can develop secondary sexual characteristics

76
Q

Should you refer patients that have turner syndrome to endocrinology?

A

Yes, so they can be started on hormonal therapy

77
Q

What also do you want to provide for someone that has turner syndrome?

A

anticipatory guidance b/c these people are at risk for obesity

height & weight WNL at birth BUT then their height will decelerate after that time

78
Q

Klinefelter Syndrome: KNOW!

A
  • Boys are born with an extra X chromosome
  • 1 in 700 male births
    -large spectrum of involvement- some people are affected A LOT & others are minimally affected.
  • identified by parental amniocentesis - can be associated with AMA

10% dx in infancy & childhood due to speech & language delays

  • mild hypotonic motor delays
  • academic & behavioral problems
  • 10% are dx in adolescents & young adulthood by physical features & pubertal delays

-incomplete puberty caused by testosterone deficiencies

-5% for infertility issues later on in life

  • hypogonadism later on in adulthood
79
Q

Klinefelters syndrome

A

dx- in small areas throughout life

-delayed puberty
-tall
-infertility issues
-speech & reading delays

**these children can be on testosterone maintenance - through endocrine specialists

80
Q

Marfan’s Syndrom: KNOW!

A

-connective tissue disorder
1. cardiovascular
2. skeletal
3. eye mutations

  • skin, lungs

dilation or dissection in the aorta
myopia
sciolosis
spontaneous pneumothorax
stretch marks or striae of the skin
disproportionate stature
long narrow face
high arched pallet
crowded teeth

  • majority have a normal intelligence, ADD or seizures
    visual problems & fine motor skills due to their joint laxity
81
Q

Marfan syndrome

A

recommendation of cardiac in all people with this condition

  • early treatment with beta blockers can be life saving
  • early prophylactic surgeries can be life saving
  • cardiac referral can be important
  • monitoring their opthalmic complications - refer them to an opthalmologist to make sure they are being closely monitored
  • monitor them closely with sports & stimulants like coffee, cold meds etc.

PED- TEST 3 (22 decks)

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