Genetic Disorder

Question 1

study of the way such disorder occur

Answer 1

Genetics

Question 2

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

Answer 2

Cytogenetics

Question 3

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

Answer 3

Genes

Question 4

composed of segment of DNA

Answer 4

Genes

Question 5

DNA

Answer 5

Deoxyribonucleic Acid

Question 6

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

Answer 6

Phenotype

Question 7

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

Answer 7

Genotype

Question 8

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

Answer 8

Genome

Question 9

normal genome

Answer 9

46 XX, 46 XY

Question 10

how many contain chromosomes in humans each cell?

Answer 10

46 chromosomes
44 autosomes, 2 sex chromosomes

Question 11

variant of genes

Answer 11

allele

Question 12

letter p

Answer 12

short arm disorder

Question 13

letter q

Answer 13

long arm disorder

Question 14

result of missing portion of chromosome 5

Answer 14

cri-du-chat syndrome

Question 15

criduchat syndrome

Answer 15

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

Question 16

Australian naturalist, in the 1800s known as
Mendelian law

Answer 16

Gregor Mendel

Question 17

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

Answer 17

homozygous

Question 18

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

Answer 18

Heterozygous

Question 19

An individual with two homozygous genes for dominant trait

Answer 19

homozygous dominant

Question 20

an individual with two genes for recessive trait

Answer 20

homozygous recessive

Question 21

how many autosomal dominant disorder known?

Answer 21

more than 3000
majority are not compatible with life after birth

Question 22

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

Answer 22

huntington disease

Question 23

what are the strategic agendas?

Answer 23

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

Question 24

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

Answer 24

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

Question 25

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

Answer 25

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

Question 26

factors of genetic disorder

Answer 26

1. genetic homogeneity 2. recessive inheritance

Question 27

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

Answer 27

Dominant genes- A

Question 28

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

Answer 28

Recessive genes- aa

Question 29

disorder of muscle weakness

Answer 29

fascioscapulohumeral muscular dystrophy

Question 30

disorder which bones are exceedingly brittle

Answer 30

osteogenesis imperfecta

Question 31

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

Answer 31

marfan syndrome

Question 32

child has 13 extra chromosome and severely cognitively challenged. most of these children do not survive beyond early childhood

Answer 32

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

Question 33

trisomy 13 (patau syndrome) presnt disorders are

Answer 33

1. cleft lip and palate 2. microcephaly 3.micropthalmos 4. low set ears 5.extra finger and toes

Question 34

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

Answer 34

trisomy 18 47XY18+ or 47XX18+ edwards syndrome

Question 35

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

Answer 35

1. severely cognitively challenge 2.sga 3. low set ears 4. small jaw 5.congenital defects 6.misshapen finger and toes 7.rocker bottom feet

Question 36

has only one functional X chromosomes

Answer 36

turner syndrome 45X0 gonadal dysgenesis

Question 37

turner syndrome 45X0 gonadal dysgenesis characteristics

Answer 37

1. short in stature 2. have small and nonfunctional ovaries 3.exception of pubic hair 4. neck is short webbed 5. low set of ears

Question 38

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

Answer 38

nuchal translucency scan

Question 39

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

Answer 39

fragile syndrome (46XY23Q-)

Question 40

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

Answer 40

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

Question 41

fragile syndrome (46XY23Q-) physical findings

Answer 41

1. large head 2.long face with high forehead 3. prominent lower jaw 4. large protruding ears 5.obesity 6.hyperextensive joints 7,. cardiac disorder 8. enlarged testicles

Question 42

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

Answer 42

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

Question 43

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

Answer 43

1. nose is broad and flat 2.back of head is flat 3.neck is short 4.low set of ears 5. poor muscle tone 6. rag doll appearance 7.finger are short and thick

Question 44

is a group of inherited red blood cell disorders.

Answer 44

Sickle cell disease (SCD)

Question 45

usually most severe form of disease both parent gave sickle cell

Answer 45

hbSS (sickle cell anemia)

Question 46

milder form of scd either S or C

Answer 46

hbSC (sickle cell trait or disease variant)

Question 47

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

Answer 47

hbS beta thalassemia

Question 48

similar to hbSS

Answer 48

hbS beta 0 thalassemia

Question 49

cause moderate anemia some sign of scd

Answer 49

hbS beta + thalassemia