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examonechrome
| Question | Answer |
|---|---|
| Norn human cell is _ _ chromosomes | 46 |
| 46 chromosomes arranged as _ _ pairs | 23 |
| 22 pairs that control most traits in the body | autosomes’ |
| 1 pair of sex chromosome, Y determines | male |
| 1 pair of sex chromosome X determines | female |
| Physical features (hair, eye color) | phenotype |
| Genetic makeup | genotype |
| Linked recessive disorder more common in males | hemophelia |
| Cell divides into 2 identical cells | mitosis |
| Division of a sex cell into 2 or 4 haploid cells (egg & sperm) | meiosis |
| Genetic map check for abnormalities (ex:sickle cell anemia), it’s an analysis of the #,form, and size of one’s chromosome | karyotype |
| Most commonly used cell in karyotyping | wbc or amniotic fluid |
| Results from unequal distribution of genetic material during gamete (egg & sperm) formation | autosomal abnormalities |
| May be a diff in number of structure of chromosomes | autosomal abnormalities |
| Entire single chromosome is missing | numerical autosomal abnormality |
| Extra chromosome (ex down syndrome) | trisomy autosomal abnormality |
| 3 copies of chromosome 21, characteristics->simian crease (deep crease across the palm) | down syndrome |
| Hyperflexability, wide set eyes, open mouth w/protruding tongue, simian crease | Down syndrome |
| Part of a chromosome is missing | structural abnormalities |
| Turner Syndorme and Klinefelter Syndrome are | sex chromosome abnormalities |
| Monosomy, X45 | Turner Syndrome |
| Trisomy XXY | Klinefelter Syndrome |
| Sex chromosome abnormality that only affects girls | Turner Syndrome |
| the female patient has only one X chromosome | Turner Syndrome |
| Juvenile genitalia, underdeveloped ovaries, short low hair line in the back, neck webbing, low set ears, no toe nails, lymph edema of hands and feet | Turner Syndrome |
| Poorly developed sexual characteristics, small testes, usually infertile, mildly retarded, tall | Klinefelter Syndrome |
| Combo of genetic and environmental factors | multifactorial inheritance |
| Cleft lip, cleft palate | multicactorial inheritance |
| Congenital heart diasease, neural tube defects, and pyloric stenosis | multifactorial inheritance |
| Spinal bifida | multifactorial inheritance (neural tube defects) |
| A chondroplasia (dwarfism) | autosomal dominant d/o |
| autosomal recessive inheritance | Person would be a carrier (ex: sickle cell anemia or tay sachs) |
| Deficiency in the liver enzyme phenylalanine hydroxylase ->failure to met amino acid phenylalanine which then accumulates in blood & are harmful to the central nervous system and cause brain damage. | phenylketonuria |
| Autosomal recessive d/o that effects the liver in which the state mandated screenings are to be done on newbornin the US | phenylketonuria |
| Lipid storage disease common in jewish and french | tay sachs |
| Deadly disease of the nervous system passed down through families. Symptoms: Deafness | Decreased eye contact, blindness |
| This autosomal recessive inherited d/o baby seems normal at 4 to 6 months, then they regress and usually die at 3 or 4 years | tay sachs (neuro prob) |
| Most common inherited form of cognitive impairment in both girls and boys,protein loss caused by a change in a gene, leads to large ears,long face,prominent forehead,protruding ears, and hypermobile joints | fragile X syndrome (baby new year) |
Created by:
troop27
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