G.D

Question 1

refers to differential expression of genetic material and allows researchers to identify whether the chromosomal material has come from the male or female parents

Answer 1

Imprinting

Question 2

disorder caused by a deletion or disruption of genes in the proximal arm of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15 no paternal contribution is presented at certain gene point

Answer 2

Prader- willi syndrome (PWS)

Question 3

what are the characteristics of pws?

Answer 3

diminished fetal activity
obesity
hypotonial
intellectual activity
short stature
hypogonadotropic hypogonadism
strabismus
small hands and feet

Question 4

Is a condition in which the male testes or the female ovaries produce little or no sex hormones

Answer 4

hypogonadism

Question 5

Is a form of gonadism that is due to a problem with the pituitary gland or hypothalamus

Answer 5

Hypogonadotrophic Hypogonadism

Question 6

Occurs not because of dominant recessive gene pattern but through a fault in the number of structure of chromosome which result in the number or result to missing or distorted gene

Answer 6

Chromosomal disorder or cytogenetic disorder

Question 7

number of chromosome and specific parts of chromosomes

Answer 7

karyotype

Question 8

process termed fluorescent in situ hybridization (FISH) or 24 chromosome single nucleotide polymorphysim (SNP)

Answer 8

Karyotyping

Question 9

chromosome disorder occur if the division is uneven

Answer 9

non disjunction disorder

Question 10

a genetic syndrome that results when a boy is born with extra copy of the X chromosome.

Answer 10

Klinefelter syndrome (XXY)

Question 11

Klinefelter syndrome (XXY) cause?

Answer 11

testicular growth(smaller than normal)
reduce muscle mass
reduced body and facial hair
enlarged breast tissue

(most men with KS)produce little or no sperm

Question 12

results from loss of parts of chromosomes
rarely suspected prenatally but may be incidentally discovered at that time if karyotyping is done for other reasons

Answer 12

chromosomal deletion syndrome

Question 13

type of down syndrome that is cause when one chromosome breaks off and attaches to other chromosome

Answer 13

translocation disorder

Question 14

rare form of down syndrome
have mixture of cells, some have two copies of chromosome 21, and some have 3

Answer 14

mosaic down syndrome or mosaicism

Question 15

mosaic down syndrome or mosaicism typically have?

Answer 15

slower speech
lower IQ
flattened face
small ears
shorter height
slanting up eyes
white spots on the iris of the eye

Question 16

if a chromosomes accidentally divides not by a vertical separation, but a horizontal one, a new chromosomes with mismatched long and short arms can result

it has the same effect as translocation disorder when an entire extra chromosomes exists

some instance of turner syndrome

Answer 16

Isochromosomes

Question 17

a process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of
developing or transmitting it and the options open to them in management and family planning in order to prevent or avoid it.

Answer 17

genetic counseling

Question 18

components of genetic counseling

Answer 18

•Contracting (ascertaining patient’s questions/concerns; providing overview of clinic visit)
• Information gathering (family and medical histories)
• Physical examination (if indicated)
• Risk assessment (determination of likely pattern(s) of inheritance, risks)
• Education about genetic condition (clinical features, prognosis, management, inheritance and implications for patient and family members)
• Ascertaining and addressing psychosocial issues/concerns
• Discussion of genetic tests/other tests/evaluations/referrals to consider
• Provision of resources about the genetic condition and contact information for national organizations/support groups
• Facilitating decision-making

Question 19

genetic counseling ethics

Answer 19

• Respect the right of individual (autonomy)
• Non- directive approach
• Keep privacy of individual and family
• Maintain the communication between counsellor and his client

Question 20

types of genetic screening

Answer 20

1. Carrier identification
2. Prenatal diagnosis
3. Newborn screening
4. Forensic screening
   (paternity test)