IMPRINTING Flashcards

1
Q

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

A

Imprinting

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2
Q

caused by a deletion or disruption of genes in the proximal arm of chromosome 15 no paternal contribution is present at certain gene points

A

Prader-Willi syndrome

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3
Q

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

A

hypogonadism

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4
Q

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

A

Hypogonadotropic hypogonadism

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5
Q

a condition that affects only femalees, results when one of the X chromosomes (sex chromosomes) is missing or partially missing

A

Turner Syndrome

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6
Q

a genetic condition that results when a boy is born with an extra copy of the X chromosome
sometimes called XXY

A

Klinefelter syndrome

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7
Q

cause when one chromosome breaks off and attaches to other chromosomes

A

Translocation disorder

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8
Q

If a chromosome accidentally divides not by a vertical separation but by a horizontal one

A

Isochromosomes

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9
Q

A process by which patients or relatives, at risk of an inherited disorder are advised of the consequences and nature of the disorder

A

Genetic Counseling

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10
Q

components of genetic counseling process

A

-contracting
-information gathering
-physical assessment
-risk assessment

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11
Q

Genetic counseling ethics

A
  • respect the right of individual
  • non directive approach
  • keep privacy of individual and family
  • maintain the communication between counselor and the client
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12
Q

Types of genetic screening

A

-Carrier identification
-forensic screening
-newborn screening
-prenatal diagnosis

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