IMPRINTING Flashcards
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