Term
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Definition
| multiple of 23 chromosomes |
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Term
| what are the types of euploidy |
|
Definition
| haploid, diploid, triploid, tetraploidy |
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|
Term
| what types of cells are haploid |
|
Definition
|
|
Term
| what types of cells are diploid |
|
Definition
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Term
|
Definition
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Term
|
Definition
|
|
Term
| how does tetraploidy happen |
|
Definition
| 2 sperm fertilize one egg |
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Term
| what are the symptoms of tetraploidy |
|
Definition
| usually spontanous abortion, some born live but die due to heart and CNS issues |
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Term
|
Definition
| derivation from euploidy number of chromosomes, loss or gain of chromosomes |
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Term
|
Definition
| one copy of specific chromosome |
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|
Term
| what are the symproms of monosomy |
|
Definition
| lethal, unless caused by one sex chromosome |
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Term
|
Definition
| three copies of a chromosome |
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|
Term
| what is the life expectancy of someone with autosomal and x-linked trisomy |
|
Definition
| can potentially survive, sex chromosome trisomy have more potential to be normal |
|
|
Term
| what does the body tolerate better: more or less genetic information |
|
Definition
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|
Term
| do chromosomal abnormalities usually have a high life expectancy |
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Definition
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|
Term
| what causes monosomy or trisomy |
|
Definition
| nondisjunction in meiosis 1 or 2 |
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|
Term
| what can increase the odds of monosomy or trisomy |
|
Definition
| age, the tipping point is approx age 35 |
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|
Term
| what chromosome numbers are there in the cells that are the final product of non dysjunction in meiosis 1 |
|
Definition
| 2 cells with n+1 chromosomes |
|
|
Term
| what chromosome numbers are there in the cells that are the final product of non dysjunction in meiosis 2 |
|
Definition
| 2 normal cells, 1 cell with n+1 |
|
|
Term
| why does nondysjunction changes increase with age |
|
Definition
| egg cells are stuck in prophase 1 until ovulation, the chromosomes become more adherent to eachother and less likley to disconnect |
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|
Term
| what is the symbol for a normal karyotype |
|
Definition
|
|
Term
| what is the karyotype for trisomy 21 |
|
Definition
|
|
Term
| what is the most common autosomal trisomy |
|
Definition
|
|
Term
| what is the most common genetic cause of mental retardation |
|
Definition
|
|
Term
| what are the symptoms of trisomy 21 |
|
Definition
| short stature, flat profile, upward slanting of the eyes, depressed nasal bridge, upper eye lids sags, displastic ears, congential heart defects, respitory infections, abnormal immune system, increased lukemia risk, early alzhimers |
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|
Term
| what is another name for trisomy 18 |
|
Definition
|
|
Term
| what is the karyotype for edwards syndrome |
|
Definition
|
|
Term
| what are the symptoms of trisomy 18 |
|
Definition
| predominent occiput, small mouth and ears, small babies, rocker bottom feet, clenched fists, overlaping fingers, congenital heart problems, organ defects |
|
|
Term
| what is another name for trisomy 13 |
|
Definition
|
|
Term
| what is the karyotype for patu syndrome |
|
Definition
|
|
Term
| what are the symptoms of trisomy 13 |
|
Definition
| oral facal cleft, small eyes, polydactyly, congenital heart defects, organ defects |
|
|
Term
| in sex chromosome aneuploidy what must there at the least be to survive |
|
Definition
|
|
Term
| what is usually more severs, sex chromosome anruploidy or autosome aneuploidy |
|
Definition
|
|
Term
| what is the karyotype of klinefelters |
|
Definition
|
|
Term
| what are the symptoms of klinefelters |
|
Definition
| atrophy of seminal tubules, small testis, long arms and legs, decreased secondary sex characteristics, gynecomastia (brests), decreased IQ |
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|
Term
| what determines the severity of klinefelters |
|
Definition
| radio of estrogen to testosterone |
|
|
Term
| what is the karyotype of tunder syndrome, the most common one |
|
Definition
|
|
Term
| describe the variations in chromosomes / karyotypes that turner syndrome has |
|
Definition
| some have 1 X, some have 1 X with missing parts, some have mosacis |
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|
Term
|
Definition
| a combination of 46XX in some cells and 45X in others |
|
|
Term
| what are the symptomes of turner syndrome |
|
Definition
| short, webbed neck, widly spaced nipples, lymphedema of ankles and wrists, broad chest, sterility due to 45X |
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|
Term
| what are te symptoms of a 47XYY |
|
Definition
| normal mostly but tall, social issues prone to hyperactivity, lower IQ |
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|
Term
| what are the symptoms of 47XXX |
|
Definition
| essentially normal, almost never diagnosed, increased chance of psycharitic problems like schizophrenia |
|
|
Term
| what is a structural chromosome abnormality |
|
Definition
| missing, added or switched piece of a chromosome |
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