Lecture 3: Pg 22 to 28 Flashcards
The fates of a million implanted human zygotes (resulting from in vitro fertilization)
- a) The rate of chromosomal abnormalities is
____ in spontaneous abortions than in live births in humans.
- a) The rate of chromosomal abnormalities is
higher in spontaneous abortions than in live births in humans.
Down Syndrome (trisomy 21)
1) Down syndrome is a genetic disorder caused when
a) ____ ____ _____ results in extra genetic material from chromosome b) ______
2) This genetic disorder, which varies in severity, causes
lifelong a) _______ ________ and developmental delays,
and in some people, it causes health problems.
3) a) _____ _______ is the most common genetic
chromosomal disorder and cause of learning disabilities
in children.
4) Living case of down syndrome: ____ Potter
- a) Down syndrome is a genetic disorder caused when
abnormal cell division results in extra genetic material from chromosome b) 21 - This genetic disorder, which varies in severity, causes
lifelong a) intellectual disability and developmental delays, and in some people, it causes health problems. - a) down syndrome is the most common genetic
chromosomal disorder and cause of learning disabilities
in children.
4) Living case of down syndrome: Lauren Potter
Aneuploidy and Sex Chromosomes
- More common than in autosomes
- Turner syndrome
- Klinefelter syndrome
- Jacobs syndrome
Aneuploidy and Sex Chromosomes - Turner Syndrome
1) a) ______ syndrome (45, X): b) ________ of the X chromosome
2) a) “_____ or 45, X karyotype.
3) Others are missing only part of the a) ___ X chromosome, or have some b) ______ rearrangements of the chromosome.
4) A _____ karyotype refers to a missing or rearranged X chromosome in some but not all cells in the body
5) It is important for someone with TS to know their karyotype since different _________ are associated with different potential health issues.
- Most individuals with Turner’s syndrome are ____ of very short stature who are ____ and may have heart defects. (example: Linda Hunt)
1) a) Turner syndrome (45, X): b) monosomy of the X chromosome
2) a) “XO or 45, X karyotype.
3) Others are missing only part of the a) second X chromosome, or have some b) structural rearrangements of the chromosome.
4) A mosaic karyotype refers to a missing or rearranged X chromosome in some but not all cells in the body
5) It is important for someone with TS to know their karyotype since different karyotypes are associated with different potential health issues.
- Most individuals with Turner’s syndrome are females of very short stature who are sterile and may have heart defects. (example: Linda Hunt)
Aneuploidy and Sex Chromosomes - Klinefelter Syndrome
1) Klinefelter syndrome (47, a) _____)
2) Klinefelter syndrome results from the presence of an a) ____ _____of the X chromosome.
3) It is a relatively common genetic condition affecting a) ____.
4) Klinefelter syndrome adversely affects a) _____ growth,
and this can result in b) ______ ______ testicles.
5) It can lead to a) _____ production of the sex hormone
testosterone, reduced b) _____ mass, reduced body and facial hair, and enlarged c) _____ tissue.
6) The effects of Klinefelter syndrome vary, and a) ____ _____ with it develops these signs and symptoms. (example: Lili Elbe)
1) Klinefelter syndrome (47, a) XXY)
2) Klinefelter syndrome results from the presence of an a) extra copy of the X chromosome.
3) It is a relatively common genetic condition affecting a) males.
4) Klinefelter syndrome adversely affects a) testicular growth, and this can result in b) smaller than normal testicles.
5) It can lead to a) lower production of the sex hormone
testosterone, reduced b) muscle mass, reduced body and facial hair, and enlarged c) breast tissue.
6) The effects of Klinefelter syndrome vary, and a) not everyone with it develops these signs and symptoms. (example: Lili Elbe)
Aneuploidy and Sex Chromosomes - Jacobs Syndrome
1) a) _____ syndrome (47, ____)
2) 47, XYY syndrome is characterized by an a)____ _____
of the b) _____ chromosome in each of a male’s cells.
3) XYY boys may be delayed in a_ ______, are b) _____ on
average and more physically active, and sometimes
display learning and c) ______ problems.
4) Their intelligence, testosterone levels, aggressiveness,
sexual development, and fertility typically fall within
the a) _____ range. They grow into men who are
b) ______ and different from the general public.
1) a) Jacobs syndrome (47, XYY)
2) 47, XYY syndrome is characterized by an a) extra copy
of the b) Y chromosome in each of a male’s cells.
3) XYY boys may be delayed in malnutrition, are b) taller on average and more physically active, and sometimes
display learning and c) behavioural problems.
4) Their intelligence, testosterone levels, aggressiveness,
sexual development, and fertility typically fall within
the a) normal range. They grow into men who are
b) unrecognizable and different from the general public.
3.5 Ways to Evaluate Risks
1) ___ ______ are part of the health care team
2) Provide information of:
* Diagnosis
* a) _________
* Mgmt of Disorder
* Possible treatments
* Possible risks and b)__________
* Adjustment
* c) _______
1) genetic counsellors are part of the healthcare team
2) Provide information of:
* Diagnosis
* a) Progression
* Mgmt of Disorder
* Possible treatments
* Possible risks and b) recurrence
* Adjustment
* c) Alternatives
Counselling Recommendations (2)
Women > age 40
- Couples with a child with:
o Intellectual disability
o A genetic disorder
o A birth defect - Couples from certain ethnic groups
- Couples that are a) ___ ______
- Individuals with jobs, lifestyles, or medical history that could pose a risk to a pregnancy
- Women who have had b) ___ or ___ miscarriages or babies who died in infancy
- Couples with known c) ____ ____
Women > age 40
- Couples with a child with:
o Intellectual disability
o A genetic disorder
o A birth defect - Couples from certain ethnic groups
- Couples that are a) closely related
- Individuals with jobs, lifestyles, or medical history that could pose a risk to a pregnancy
- Women who have had b) 2 or more miscarriages or babies who died in infancy
- Couples with known c) genetic risk
Genetic Counseling
o Most see a genetic counsellor:
1) After a a)____ test
2) After the b) _____of a child
3) To determine their c) ____
o Counselor
1) Constructs a detailed a) family history and a)______
2) Shares information that allows an individual or a couple to make a) ____ ______
Genetic Counseling
o Most see a genetic counsellor:
1) After a a) prenatal test
2) After the b) birth of a child
3) To determine their c) risks
o Counselor
1) Constructs a detailed a) family history and a) pedigree
2) Shares information that allows an individual or a couple to make a) informed decisions
Future of Genetic Counseling
1) a) ____ _____ ______ (HGP) changed medical care and genetic testing.
2) a) ________ ________will become more important
3) Evaluate a) ________ risks and other conditions
4) Allow a) ____ - _____ individuals to make informed choices about lifestyle, children, and medical
care
1) a) Human Genome Project (HGP) changed medical care and genetic testing.
2) a) Genetic counsellors will become more important
3) Evaluate a) reproductive risks and other conditions
4) Allow a) at-risk individuals to make informed choices about lifestyle, children, and medical
care
3.6 Legal and Ethical Issues
1) Wrongful- a)____ suit
2) Wrongful- a)_____ suit
- Based on:
o Could a diagnosis of this condition have been made in time to have an abortion?
o Was the condition serious enough that a reasonable person would have had an abortion?
1) Wrongful- a) birth-suit
2) Wrongful- a) life- suit
- Based on:
o Could a diagnosis of this condition have been made in time to have an abortion?
o Was the condition serious enough that a reasonable person would have had an abortion?
Roe vs. Wade
1) Supreme Court Finds Right to Choose a) ______
2) On a) ____ ___ ______, the U.S. Supreme Court delivered its decision in Roe v. Wade.
3) The case had been filed by a) “____ _____,” an unmarried woman who wanted to end her pregnancy safely and legally.
4) Previously it was a a) _____ to perform an abortion unless a woman’s life was at stake
5) Siding with Roe, the court struck down the a) ____ law.
6) In its ruling, the court recognized for the first time that the a) _________ right to privacy “is broad enough to encompass a woman’s decision whether or not to b) ________ her pregnancy” (Roe v. Wade 1973)
1) Supreme Court Finds Right to Choose a) Abortion
2) On a) January 22, 1973, the U.S. Supreme Court delivered its decision in Roe v. Wade.
3) The case had been filed by a) “Jane Roe,” an unmarried woman who wanted to end her pregnancy safely and legally.
4) Previously it was a a) crime to perform an abortion unless a woman’s life was at stake
5) Siding with Roe, the court struck down the a) Texas law.
6) In its ruling, the court recognized for the first time that the a) constitutional right to privacy “is broad enough to encompass a woman’s decision whether or not to b) terminate her pregnancy” (Roe v. Wade 1973)
Abortion in Canada
1) Abortion was a crime in Canada until a) _____ when it became legal only if the mother’s life was in b) _______.
2) Dr. a) _____ Morgentaler was arrested and served time for performing abortions in 1973 and was tried again in the 80s.
3) Abortion was a)_______ on January 28, 1988, when the Supreme Court of Canada declared the b) ___ _____ _____ of the Criminal Code unconstitutional.
4) Dr. Morgentaler’s challenge was that under the Charter of Rights and Freedoms, the criminal code a) _______ a woman’s freedom.
5) Then, in May 1990, the House of Commons passed a) ______, legislation to recriminalize abortion.
- The new law would have made obtaining an abortion punishable by up to b) ___ years in jail unless a doctor determined that continuing a pregnancy threatened a woman’s physical, c) _______ or d) _________health.
1) Abortion was a crime in Canada until a) 1969 when it became legal only if the mother’s life was in b) danger
2) Dr. a) Henry Morgentaler was arrested and served time for performing abortions in 1973 and was tried again in the 80s.
3) Abortion was a) decriminalized on January 28, 1988, when the Supreme Court of Canada declared the b) old abortion section of the Criminal Code unconstitutional.
4) Dr. Morgentaler’s challenge was that under the Charter of Rights and Freedoms, the criminal code a) restricted a woman’s freedom.
5) Then, in May 1990, the House of Commons passed a) BIll C-43, legislation to recriminalize abortion.
- The new law would have made obtaining an abortion punishable by up to b) 2 years in jail unless a doctor determined that continuing a pregnancy threatened a woman’s physical, c) mental or d) psychological health.
