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109 maternal > Genetic Disorder > Flashcards

Genetic Disorder Flashcards

1
Q

study of the way such disorder occur

A

Genetics

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2
Q

study of chromosomes by light microscopy and method by which chromosomal aberrations are identified

A

Cytogenetics

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3
Q

basic units of hereditary that determine both the physical cognitive characteristics of people

A

Genes

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4
Q

composed of segment of DNA

A

Genes

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5
Q

DNA

A

Deoxyribonucleic Acid

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6
Q

his/her outward appearance or observable characteristics or the expression of genes

A

Phenotype

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7
Q

his/her actual gene composition. it impossible to predict a person’s genotype from phenotype (outward appearance)

A

Genotype

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8
Q

Complete set of genes present about 50,000 to 100,000

A

Genome

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9
Q

normal genome

A

46 XX, 46 XY

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10
Q

how many contain chromosomes in humans each cell?

A

46 chromosomes
44 autosomes, 2 sex chromosomes

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11
Q

variant of genes

A

allele

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12
Q

letter p

A

short arm disorder

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13
Q

letter q

A

long arm disorder

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14
Q

result of missing portion of chromosome 5

A

cri-du-chat syndrome

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15
Q

criduchat syndrome

A

sound of a cat
small head
wide set eyes
downward slant to the palpebral fissure of eye
recesses mandible
severely cognitively challenge

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16
Q

Australian naturalist, in the 1800s known as
Mendelian law

A

Gregor Mendel

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17
Q

two healthy genes
(one from mother & one from father)

A

homozygous

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18
Q

healthy gene from mother
unhealthy gene from father (vice versa)

A

Heterozygous

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19
Q

An individual with two homozygous genes for dominant trait

A

homozygous dominant

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20
Q

an individual with two genes for recessive trait

A

homozygous recessive

21
Q

how many autosomal dominant disorder known?

A

more than 3000
majority are not compatible with life after birth

22
Q

a progressive neurologic disease, characterized by loss of motor control and intellectual deterioration

A

huntington disease

23
Q

what are the strategic agendas?

A

strategic priority
1: save lives
2: promote well-being
3: protect health
4: optimize the health architecture
5. use platforms for health

24
Q

what are the major complications that account for nearly 75% of all maternal deaths?

A
  1. severely bleeding
  2. infection
  3. pre eclampsia and eclampsia
  4. complications from delivery
  5. unsafe abortion
  6. malaria
  7. cardiac diseases
  8. diabetes
25
Q

main factors that prevent women from receiving or seeking care during pregnancy and childbirth are:

A

1.poverty
2. distance to facilities
3. inadequate and poor quality services
4.cultural beliefs and practices

26
Q

factors of genetic disorder

A
  1. genetic homogeneity
  2. recessive inheritance
27
Q

one that express its trait even if only one copy of the allele present

A

Dominant genes- A

28
Q

only expresses its trait if two copies of the recessive allele are inherited. one from each parent

A

Recessive genes- aa

29
Q

disorder of muscle weakness

A

fascioscapulohumeral muscular dystrophy

30
Q

disorder which bones are exceedingly brittle

A

osteogenesis imperfecta

31
Q

a disorder of connective tissue that result in an individual being thinner and taller than usual and perhaps with associated heart aortic defects.

A

marfan syndrome

32
Q

child has 13 extra chromosome and severely cognitively challenged.

most of these children do not survive beyond early childhood

A

TRISOMY 13 47XY13+/ 47XX13+
or PATAU SYNDROME

33
Q

trisomy 13 (patau syndrome) presnt disorders are

A
  1. cleft lip and palate
  2. microcephaly
    3.micropthalmos
  3. low set ears
    5.extra finger and toes
34
Q

have 3 copies of chromosome 18.
most these children children do not survive beyond infancy

A

trisomy 18 47XY18+ or 47XX18+
edwards syndrome

35
Q

trisomy 18 47XY18+ or 47XX18+
edwards syndrome characteristics

A
  1. severely cognitively challenge
    2.sga
  2. low set ears
  3. small jaw
    5.congenital defects
    6.misshapen finger and toes
    7.rocker bottom feet
36
Q

has only one functional X chromosomes

A

turner syndrome 45X0
gonadal dysgenesis

37
Q

turner syndrome 45X0
gonadal dysgenesis characteristics

A
  1. short in stature
  2. have small and nonfunctional ovaries
    3.exception of pubic hair
  3. neck is short webbed
  4. low set of ears
38
Q

turner syndrome 45X0
gonadal dysgenesis can be identified on sonogram during pregnancy thru?

A

nuchal translucency scan

39
Q

most common cause of cognitive challenge in males.
one long arm of X chromosomes is defective

A

fragile syndrome (46XY23Q-)

40
Q

fragile syndrome (46XY23Q-)
demonstrate maladaptive behaviors such as

A

hyperactivity
aggresion
autism
reduced intellectual functioning
marked deficits in speech and arithmetic

41
Q

fragile syndrome (46XY23Q-)
physical findings

A
  1. large head
    2.long face with high forehead
  2. prominent lower jaw
  3. large protruding ears
    5.obesity

6.hyperextensive joints
7,. cardiac disorder
8. enlarged testicles

42
Q

most frequently occurring chromosomal disorder
about 1 in 800 pregnancy
higher chance in 35 yrs old 1in 100 live births

A

Trisomy 21 (47XY21+ or 47XX21+)
down syndrome

43
Q

Trisomy 21 (47XY21+ or 47XX21+)
down syndrome physical feature

A
  1. nose is broad and flat
    2.back of head is flat
    3.neck is short
    4.low set of ears
  2. poor muscle tone
  3. rag doll appearance
    7.finger are short and thick
44
Q

is a group of inherited red blood cell disorders.

A

Sickle cell disease (SCD)

45
Q

usually most severe form of disease
both parent gave sickle cell

A

hbSS (sickle cell anemia)

46
Q

milder form of scd
either S or C

A

hbSC (sickle cell trait or disease variant)

47
Q

a hemoglobinopathy that causes symptoms similar to those of sickle cell disease, but less severe

A

hbS beta thalassemia

48
Q

similar to hbSS

A

hbS beta 0 thalassemia

49
Q

cause moderate anemia
some sign of scd

A

hbS beta + thalassemia

109 maternal (3 decks)

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