Biology 1001 Chapter 26 Genetic Counseling
About this set
Created by:
thumpaholden Plus on April 25, 2010
Log in to favorite or report as inappropriate.
Order by
108 terms
Terms | Definitions |
|---|---|
 XYY | Karyotype of a person with Jacob Syndrome. |
| x-linked genes | Genes on the x-chromosome of the 23rd pair, that determines something other than sex. |
| yes | Can chromosomal mutations be seen under a microscope? |
| autosomal dominant | A pedigree chart indicates that children exhibiting a particular trait have one or both parent affected, two affected parents can have an unaffected child. What kind of genetic disorder is it? |
| neither of the parents of affected individuals exhibit the trait | Pedigree chart of an autosomal recessive trait shows 1) ________, 2) some - but not all - children exhibit the trait. |
| deletion | Four types of chromosomal mutation: 1) inversion, 2) translocation, 3) _________, 4) duplication. |
| 1:60 | Ratio of births that have Down's syndrome if the mother is over 40. |
| some - but not all - children exhibit the trait | Pedigree chart of an autosomal dominant trait shows 1) _________, 2) one or both parents of affected individuals also exhibit the trait. |
| some - but not all - children exhibit the trait | Pedigree chart of an autosomal recessive trait shows 1) Neither of the parents of affected individuals exhibit the trait, 2) ________. |
| nondisjunction | Term for when homologues fail to separate during meiosis 1 or chromatids fail to separate in meiosis 2. |
| Normal | What will the sickle-cell anemia phenotype be of a person with genotype of HbA HbA? |
| x-linked | What category of genetic disorder is colour blindness? |
| autosomal | Which type of chromosomal disorder is Down's syndrome? |
| sickle cell anemia | Example of a disease involving incomplete dominance. |
| short stubby fingers | Symptoms of Down's Syndrome: 1) mental retardation, 2) large rounded head, 3) fold in the eyelid (mongoloid), 4) large tongue, 5) heart problems, 6) crease in the palm of the hand, 7) _________, 8) gap between big toe and second toe. |
| Haemophilia | Three disorders that are caused by x-linked genes: 1) Duchenne (check spelling) muscular distrophy, 2)_________, 3) colour blindness (color deficiency). |
| radiation | Three environmental agents of mutation: 1)______, 2) organic compounds, 3) viruses. |
| autosomal recessive | What category of genetic disorder is cystic fibrosis? |
| colour blindness (color deficiency) | Three disorders that are caused by x-linked genes: 1) Duchenne (check spelling) muscular distrophy, 2) Haemophilia, 3) ________. |
| mental retardation | Symptoms of Down's Syndrome: 1) _________, 2) large rounded head, 3) fold in the eyelid (mongoloid), 4) large tongue, 5) heart problems, 6) crease in the palm of the hand, 7) short stubby fingers, 8) gap between big toe and second toe. |
| large tongue | Symptoms of Down's Syndrome: 1) mental retardation, 2) large rounded head, 3) fold in the eyelid (mongoloid), 4) _________, 5) heart problems, 6) crease in the palm of the hand, 7) short stubby fingers, 8) gap between big toe and second toe. |
| Edward Syndrome | Trisomy 18 is also known as _______. |
| viruses | Three environmental agents of mutation: 1) radiation, 2) organic compounds, 3)_______. |
| sex linked genes | Genes located on the sex-chromosomes that have nothing to do with sex. |
| gap between big toe and second toe | Symptoms of Down's Syndrome: 1) mental retardation, 2) large rounded head, 3) fold in the eyelid (mongoloid), 4) large tongue, 5) heart problems, 6) crease in the palm of the hand, 7) short stubby fingers, 8) _________. |
| Metafemale | Sex chromosomal disorder XXX is also known as ________. |
| Down's Syndrome | Syndrome that is caused by the most common autosomal abnormality. |
| often skips a generation from grandfather to grandson | Three characteristics of x-linked genetic disorder that help you to identify it on a pedigree chart: 1) more males than females are affected, 2)________, 3) If a woman has it, all of her sons has it. |
| Klinefelter's syndrome | Which chromosomal disorder: Individual is male in appearance, testes do not develop, sterile, no facial hair, breasts enlarged, large hands and feet, long arms and legs, usually subnormal intelligence. |
| neurofibromatosis | Give an example of an autosomal dominant genetic disorder. |
| heart problems | Symptoms of Down's Syndrome: 1) mental retardation, 2) large rounded head, 3) fold in the eyelid (mongoloid), 4) large tongue, 5) _________, 6) crease in the palm of the hand, 7) short stubby fingers, 8) gap between big toe and second toe. |
| metafemale | Which chromosomal disorder: Individual is fertile and has children with the normal number of chromosomes, usually no physical abnormalities present, often have menstrual cycle irregularities including early menopause, tendency towards learning disabilities. |
| sickle cell trait | What will the sickle-cell anemia phenotype be of a person with genotype HbA Hba? |
| 1:1500 | Ratio of births with metafemale syndrome. |
| the trait usually affects males | Pedigree chart of an X-linked recessive trait shows 1) _________, 2) usually skips a generation. |
| duplication | Four types of chromosomal mutation: 1) inversion, 2) _________, 3) deletion, 4) translocation. |
| mutation | A permanent genetic change. |
| sex | Which type of chromosomal disorder is Turner syndrome? |
| autosomal recessive | A pedigree chart indicates that some but not all kids have a particular trait, and neither of their parents has it (but may be carriers). What kind of genetic disorder is it? |
| cri du chat | Syndrome resulting from deletion of part of chromosome number 5, characterized by small head, facial abnormalities, mental retardation. |
| metafemale | Which chromosomal disorder occurs if a normal sperm cell with an X fertilizes an oocyte with XX? |
| translocation | Type of chromosomal mutation where crossover occurs between non-homologous chromosomes. |
| more males than females are affected | Three characteristics of x-linked genetic disorder that help you to identify it on a pedigree chart: 1)__________, 2) often skips a generation from grandfather to grandson, 3) If a woman has it, all of her sons has it. |
| autosomal recessive | What category of genetic disorder is Tay sachs? |
| meiosis 2 (metaphase 2) | Jacobs syndrome is due to nondisjunction during ________ |
| large rounded head | Symptoms of Down's Syndrome: 1) mental retardation, 2) _________, 3) fold in the eyelid (mongoloid), 4) large tongue, 5) heart problems, 6) crease in the palm of the hand, 7) short stubby fingers, 8) gap between big toe and second toe. |
| autosomal recessive | A pedigree chart shows several individuals exhibiting a trait. Neither of the parents of affected individuals exhibit the trait, and some - but not all - of the kids exhibit the trait. On which type of chromosome is the allele located, and is the trait dominant or recessive? |
| autosomal recessive | What category of genetic disorder is PKU? |
| nondisjunction | Term for when homologues fail to separate during meiosis 1 or chromatids fail to separate in meiosis 2. |
| cri du chat | Example of a syndrome resulting chromosomal mutation by deletion. |
| cystic fibrosis/ Tay sachs/PKU | Give an example of an autosomal recessive genetic disorder. |
| 75 | Percentage of Down's syndrome cases where it is the mother who contributes the extra egg. |
| Turner syndrome | Sex chromosomal disorder XO is also known as ________. |
| one or both parents of affected individuals exhibit the trait | Pedigree chart of an autosomal dominant trait shows 1) some - but not all - children exhibiting a trait, 2) _________. |
| Nondisjunction during meiosis 2 of spermatogenesis | What is Jacob's syndrome normally caused by? |
| testes determining factor | Which gene on the Y chromosome that signifies the individual be a male regardless of the number of X chromosomes? |
| crease in the palm of the hand | Symptoms of Down's Syndrome: 1) mental retardation, 2) large rounded head, 3) fold in the eyelid (mongoloid), 4) large tongue, 5) heart problems, 6) _________, 7) short stubby fingers, 8) gap between big toe and second toe. |
| circle | Symbol used on a pedigree chart to indicate a woman. |
| Jacob's syndrome | Which chromosomal disorder: Usually taller than normal, life-long persistence of acne, subnormal intelligence. |
| x-linked | What category of genetic disorder is Duchenne (check spelling) muscular distrophy? |
| Trisomy 18 | Which autosomal disorder causes Edward Syndrome? |
| XO | Karyotype of person with Turner Syndrome |
| X(B)X(B), X(B)X(b), X(B)Y, X(b)Y | The male parent is normal and the female parent is a carrier of colour blindness; what are the possible genotypes for their children? |
| deletion | Type of chromosomal mutation where the end of the chromosome breaks off. |
| 0 | A woman is colour-blind, her husband is not. What are the percentage chances that her daughters will be colour-blind? |
| inversion | Type of chromosomal mutation where the same genes are on the chromosome but the reversed sequence can cause problems. |
| organic compounds | Three environmental agents of mutation: 1) radiation, 2) )______, 3) viruses. |
| If a woman has it, all of her sons has it | Three characteristics of x-linked genetic disorder that hel you to identify it on a pedigree chart: 1) more males than females are affected, 2) often skips a generation from grandfather to grandson, 3)_______. |
| Neither parent has it, but some not all of the kids have it | Two characteristics of autosomal recessive genetic disorders that help you to identify it on a pedigree chart: 1)_______, 2) parents may be carriers. |
| 1:800 | Normal ratio of births that have Down's syndrome |
| syndrome | A group of symptoms that appear together and tend to indicate the presence of a particular disorder. |
| incomplete dominance | Name the phenotypic expression of a heterozygous genotype where the phenotype is a blend of the dominant and recessive alleles. |
| the trait usually skips a generation | Pedigree chart of an X-linked recessive trait shows 1) the trait usually affects males, 2) _______ . |
| sickle cell anaemia | What will the sickle-cell anemia phenotype be of a person with genotype Hba Hba? |
| shaded symbols | Convention used on pedigree charts to indicate that the trait being mapped is exhibited. |
| sex | Which type of chromosomal disorder is Klinefelder syndrome? |
| XXY | Karyotype of a person with Klinefelter Syndrome. |
| x-linked recessive | A pedigree chart shows that a trait usually affects males and usually skips a generation. On which type of chromosome is the allele located, and is the trait dominant or recessive? |
| translocation | Movement of a chromosomal segment from one chromosome to another non-homologous chromosome. |
| trisomy 21 | Other name for Down's Syndrome. |
| Klinefelter syndrome | Sex chromosomal disorder XXY is also known as _______. |
| homologues, chromatids | Nondisjunction: Term for when ________fail to separate during meiosis 1 or _________ fail to separate in meiosis 2. |
| translocation | 5% of Down's Syndrome cases are caused by this type of chromosomal mutation. |
| Jacob syndrome | Sex chromosomal disorder XYY is also known as _________. |
| sex | Which type of chromosomal disorder is Jacob syndrome? |
| Duchenne muscular distrophy | Three genetic disorders that are caused by x-linked genes: 1)________, 2) Haemophilia, 3) colour blindness (color deficiency). |
| 1:2500 | Ratio of births with Turner's syndrome. |
| parents may be carriers | Two characteristics of autosomal recessive genetic disorders that help you to identify it on a pedigree chart: 1) Neither parent has it, but some not all of the kids have it, 2)________. |
| homologues, chromatids | Nondisjunction: Term for when ________fail to separate during meiosis 1 or _________ fail to separate in meiosis 2. |
| square | Symbol used on a pedigree chart to indicate a man. |
| sickle cell anemia | Genetic disease resulting in defective haemoglobin, blood clotting and restricted blood flow to the brain. |
| autosomal dominant | What category of genetic disorder is neurofibromatosis/von Recklinghousen's disease (elephant man?) |
| Down syndrome | Trisomy 21 is also known as ______. |
| 100 | A woman is colour-blind, her husband is not. What are the percentage chances that her sons will be colour-blind? |
| XXX | Karyotype of a person with Metafemale Syndrome. |
| duplication | Type of chromosomal mutation where a chromosomal segment is duplicated on the same chromosome. |
| 1:800 | Ratio of births with Klinefelter's syndrome. |
| autosomal dominant | A pedigree chart shows some - but not all - children exhibiting a trait, and one or both parents also exhibit it. On which type of chromosome is the allele located, and is the trait dominant or recessive? |
| sex chromosome | On which type of chromosomes are the genes that determine the development of the sex organs? |
| inversion | Type of chromosomal mutation where a segment is turned around 180 degrees. |
| Trisomy 21 | Which autosomal disorder causes Down's Syndrome? |
| segregate | Law of segregation: Each organism contains two alleles for each trait, and the alleles ________during the formation of gametes. Each gamete then contains only one allele for each trait. When fertilization occurs, the new organism has two alleles for each trait, one from each parent. |
| pedigree chart | Tool used to show the pattern of inheritance for a particular trait through a series of generations. |
| translocation | Four types of chromosomal mutation: 1) _________, 2) inversion, 3) deletion, 4) duplication. |
| Turner's syndrome | Which chromosomal disorder: Female has ovaries but they never develop, no puberty or menstruation, lack of breasts, sterile, short stocky build, webbed neck. |
| inversion | Four types of chromosomal mutation: 1) _________, 2) translocation, 3) deletion, 4) duplication. |
| fold in the eyelid (mongoloid) | Symptoms of Down's Syndrome: 1) mental retardation, 2) large rounded head, 3) _________, 4) large tongue, 5) heart problems, 6) crease in the palm of the hand, 7) short stubby fingers, 8) gap between big toe and second toe. |
| x-linked | What category of genetic disorder is haemophilia? |
First Time Here?
Welcome to Quizlet, a fun, free place to study. Try these flashcards, find others to study, or make your own.