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100 Cards in this Set
- Front
- Back
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Name the two types of human chromosomes:
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2 sex chromosomes
44 autosomes |
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Which chromosomes carry the genetic information for most physical and chemical traits?
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autosomes
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Which chromosomes carry the genetic information for male or female humans?
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sex chromosomes X and Y
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Which combination of X and Y chromosomes are women?
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XX
one from mother, one from father |
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Which combination of X and Y chromosomes are men?
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XY
one from mother, one from father |
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Who contributes the X or Y chromosome that determines the sex of a child?
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father X or Y
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How many chromosomes are in a human gamete?
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23
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How many chromosomes are in a human somatic cell?
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46
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What is nondisjunction?
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The improper division of a cell during meiosis or mitosis that causes the daughter cells to have more or less chromosomes than normal.
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Does nondisjunction cause problems in somatic cells?
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No
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Where does nondisjunction of gametes occur?
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In the testes or ovaries.
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What happens in nondisjunction during meiosis I?
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sister chromatids to do not separate
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What happens in nondisjunction during meiosis II?
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homologous pairs do not separate
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How many of a zygote's cell will have an extra chromosome from the sperm having an extra chromosome?
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All
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What is trisomy?
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When an individual has three chromosomes at a homologous pair instead of two.
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What chromosome has trisomy for Down syndrome?
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pair 21 has 3 chromosomes
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What is monosomy?
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when a homologous pair has only one chromosome
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When does Turner's syndrom occur?
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When monosomy occurs in a female so that she only has one X chromosome
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What disjuction is Klinefelter disorder?
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karyotype has an extra X sex chromosome in males YXX
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What are the symptoms of Klinefelter?
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small testes, development of breasts in males, sterile
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What disconjunction is Turner disorder?
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a female is missing an X chromosome, XO, monosomy
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What are the symptoms of Turner disorder?
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infertile, short, webbed neck, broad chest, female
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What disconjunction is Down syndrome?
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Trisomy 21, extra chromosome at 21, 2n+1, male and female
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What are the symptoms of Down syndrome?
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mental retardation, flat face, heart problems
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What disconjunction is Edward Syndrome?
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trisomy 18, extra chromosome at 18, 2n+1, males and female
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What are the symptoms of Edward Syndrome?
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mental retardation, fisted hands, heart problems
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What disconjunction is Patau Syndrome?
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trisomy, extra chromosome at 13, 2n+1, male and female
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What are the symptoms of Patau Syndrome?
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cleft palate, mental retardation, small eyes, malformed ears
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When is there a higher chance of nondisjunction?
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When women and men are older, because cells do not divide as efficiently as they used to do.
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What is the chance a woman of 40 will have a Down Syndrome baby compared to a woman of 30 or 20?
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age 40: 1:100
age 30: 1:800 age 20: 1:1500 |
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What is a karyotype?
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A karyotype is a photograph of an individual's chromosomes place into homologous pairs.
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What can a karyotype tell you?
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Sex and chromosomal disorders of missing or added chromosomes.
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What is the process for obtaining a karyotype? (also called chromosome analysis)
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1. Obtain cell with nucleus
2. Allow cell to divide; stop in prophase. 3. Stain chromosomes 4. Take photo. 5. Cut and paste chromosomes in order (largest to smallest, then sex chromosomes). |
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Where does the cell sample come from for a karyotype?
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the fetus
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What are the two ways to obtain a cell sample for a karyotype?
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amniocentesis which samples amniotic fluid, (15th week) and Chromosome Villi Sampling (CVS) which samples placenta tissue (11th week)
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What three things does the zygote make?
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baby, umbilical cord, placenta
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How many karyotypes are performed in the US each year?
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400,000+
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When are the 23 pairs of chromosomes visible?
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during mitosis in prophase
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What dye is used to stain chromosomes in a karyotype?
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Giemsa dye in a process called G-banding
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What bases are stained in a karyotype?
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adenine and thymine
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What three aspects of chromosomes are used to match homologous pairs?
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1. length
2. placement of centromeres 3. location and size of G-bands |
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What is the epithelium?
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one of four basic types of animal tissue which lines cavities and surfaces of body structures
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What kind of cells are used for karyotyping from amniocentesis?
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epithelial cells
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What blood cells can be used for karyotyping?
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nucleated cells
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What is polydactyly?
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Polydactyly occurs when a person has more than 5 fingers or toes.
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What notation characterizes Down syndrome in a female?
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46, XX +21
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What notation characterizes Klinefelter Syndrome in a male?
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47, XXY
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What is trisomy 13?
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Patau syndrome which may include polydactyly and cleft palate
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What is the notation for a person with Triple X?
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47, XXX
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What is the notation for a person who has Turner's Syndrom?
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45, XO
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What is the endocrine system?
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Glands that control the body and its functions by chemical messengers.
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Name the endocrine system parts:
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pituitary gland
thymus gland adrenal gland testis (plural is testes) ovaries hypothalamus pineal gland thyroid gland parathyroid gland pancreas |
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Pituitary gland location and function?
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location: brain
releases hormones that stimulate puberty |
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Thymus gland location and function?
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chest
produces thymosin - stimulates T-cell development, immune system |
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Adrenal gland location and function?
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produces epinephrine and norephrine - flight or fight response, also controls salt, water and glucose amounts
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Testis location and function?
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male groin
produces testosterone - develops and maintains male reproductive parts |
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Ovaries location and function?
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female groin
produces estrogen and progesterone - develops and maintains female reproductive system |
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Hypothalamus location and function?
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brain
releases hormones that aid in puberty |
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Pineal gland location and function?
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brain
produces melatonin - controls response to day and seasonal changes |
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Thyroid gland location and function?
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throat
produces thyroxine - speeds up metabolism and controls growth |
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What is the endocrine system?
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Glands that control the body and its functions by chemical messengers.
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Name the endocrine system parts:
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pituitary gland
thymus gland adrenal gland testis (plural is testes) ovaries hypothalamus pineal gland thyroid gland parathyroid gland pancreas |
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Pituitary gland location and function?
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location: brain
releases hormones that stimulate puberty |
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Thymus gland location and function?
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chest
produces thymosin - stimulates T-cell development, immune system |
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Adrenal gland location and function?
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produces epinephrine and norephrine - flight or fight response, also controls salt, water and glucose amounts
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Testis location and function?
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male groin
produces testosterone - develops and maintains male reproductive parts |
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Ovaries location and function?
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female groin
produces estrogen and progesterone - develops and maintains female reproductive system |
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Hypothalamus location and function?
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brain
releases hormones that aid in puberty |
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Pineal gland location and function?
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brain
produces melatonin - controls response to day and seasonal changes |
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Thyroid gland location and function?
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throat
produces thyroxine - speeds up metabolism and controls growth - affects goiter |
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Parathyroid gland location and function?
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throat
produces parathyroid hormone and regulates the amount of calcium in the body - affects skeletal system |
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Pancreas location and function?
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next to kidneys
produces insulin which lowers blood sugar and glucagon which raises blood sugar (central to diabetes) |
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What controls the menstrual and ovarian cycles?
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endocrine glands
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What is the menstrual cycle?
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shedding of an unfertilized egg and tissue built up to protect the egg if fertilized
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What is the ovarian cycle?
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monthly release of an egg
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What parts of the endocrine system trigger the ovarian cycle?
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pituitary gland and hypothalamus
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How do ovaries respond to the signals from the endocrine system?
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prepares an egg for release (meiosis) and makes high amounts of estrogen
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What is triggered by an increased amount of estrogen in the female body?
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A blood lining builds in the uterus
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What day of the 28 day menstrual cycle is an egg normally released?
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ovulation occurs at day 14 normally
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When can a woman get pregnant normally?
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Days 13-15 when an egg is released from an ovary
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What happens during the first 12 days of the menstrual cycle?
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Body builds up blood lining of uterus and egg develops in ovary
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What happens during days 16-28 of the menstrual cycle?
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If the egg is fertilized it attaches to the blood lining of the uterus; if not fertilized, the egg and lining will be shed.
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Why does the estrogen increase also cause a progesterone increase?
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Progesterone prepares the woman's body for a baby, and it stays high if the egg is fertilized.
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What happens to progesterone if the egg is not fertilized?
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the progesterone drops off and initiates shedding the blood lining
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What do birth control pills do?
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disrupt the balance of estrogen and progesterone so a woman does not ovulate but still menstruates
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What are the fallopian tubes?
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A fallopian tube connects each ovary to the uterus, and is where fertilization occurs.
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What lines the fallopian tube and what is the function?
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cilia line the fallopian tube and help to move the egg through the tube
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What is an ovary?
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the place where eggs develop into ovum (mature eggs), and estrogen and progesterone are produced
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What is the vagina?
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where sperm is deposited and the exit of the birth canal
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What is the cervix?
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The cervix connects the uterus and vagina. It is difficult for sperm to penetrate, and dilates when the baby is ready to be born (10 cm).
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What is the uterus?
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where the fetus develops, and where the mother's body is connected to the baby through the placenta which is attached to the uterus.
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What is the placenta called once the baby is born?
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the afterbirth which must also be pushed out of the mother
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What is the function of the penis?
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to deliver sperm into the vagina during intercourse. It is made of spongy tissue that fills with blood during intercourse.
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What is the teste?
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where the sperm develops; where testosterone is produce; unused sperm are reabsorbed by the body
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What is the scrotum?
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a sac of skin that holds the testes away from the body to keep sperm at a cooler temperature than the rest of the body so they function properly
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What is the urethra in males?
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a tube which travels down the length of the penis and releases as many as 200-500 million sperm at a time
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What is the epididymis?
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the tube which holds mature sperm from the testes
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What is the vas deferns?
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the tube which connects the epididymis to the urethra
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What is the prostate?
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the gland that encompasses the urethra in males, and produces part of the semen which is high in fructose and supplies energy for the sperm
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What is the semen made of?
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sugar and water (H20)
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