IMPRINTING Flashcards
(12 cards)
Refers to differential expression of genetic material and allows researchers to identify whether the chromosomal material has come from the male or female parents
Imprinting
caused by a deletion or disruption of genes in the proximal arm of chromosome 15 no paternal contribution is present at certain gene points
Prader-Willi syndrome
a condition in which the male testes or the female ovaries produce little or no sex hormones
hypogonadism
a form of hypogonadism that is due to a problem with the pituitary gland or hypothalamus
Hypogonadotropic hypogonadism
a condition that affects only femalees, results when one of the X chromosomes (sex chromosomes) is missing or partially missing
Turner Syndrome
a genetic condition that results when a boy is born with an extra copy of the X chromosome
sometimes called XXY
Klinefelter syndrome
cause when one chromosome breaks off and attaches to other chromosomes
Translocation disorder
If a chromosome accidentally divides not by a vertical separation but by a horizontal one
Isochromosomes
A process by which patients or relatives, at risk of an inherited disorder are advised of the consequences and nature of the disorder
Genetic Counseling
components of genetic counseling process
-contracting
-information gathering
-physical assessment
-risk assessment
Genetic counseling ethics
- respect the right of individual
- non directive approach
- keep privacy of individual and family
- maintain the communication between counselor and the client
Types of genetic screening
-Carrier identification
-forensic screening
-newborn screening
-prenatal diagnosis