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Genetic Disorders
Test #2
| Question | Answer |
|---|---|
| What is the basic unit of heredity? | Gene |
| A product of a particular protein portion DNA which governs the synthesis of a particular polypeptide | Gene |
| Where are genes located? | on chromosomes |
| What do genes contain? | coded information that determines the person's unique characteristics |
| Where are chromosomes located? | in the nucleus of a cell |
| What are chromosomes composed of? | DNA and proteins |
| How many chromosomes in humans and how are they broken down? | 46-23 pairs-22 autosomes-1 pair of sex chromosomes (they are haploid) |
| Chromosomal aberration deviation | involves the gain or loss of a chromosome during cell division |
| Structural chromosome aberration | the loss, adition, rearrangement, or exchange of some of the genes of a chromosome |
| Nondisjunction Aberration | *most common During meiosis, a chromosome pair fails to separate normally => one gamete will have 2 and the other will have none of that chromosome |
| Translocation Aberration | a piece of a chromosome breaks off and subsequently attaches itself to another nonhomologus chromosome |
| Duplication Aberration | the presence of an extra piece of a chromosome |
| Deletion Aberration | a piece of the chromosome is broken off and lost |
| Causes of chromosomal aberrations | -Late maternal age (>35)-Predisposition-Predisposition-Autoimmune disease-radiation-viruses-lsd-Spontaneous |
| Trisomy 21 | Chromosomal Aberration* Down's Syndrome-Extra chromosome (present 3 x instead of 2)-95% nondisjunction, 5% translocation |
| Trisomy 18 | Chromosomal Aberration* Edwards Syndrome-severe deformation and mental retardation. Usually do not survive past 1 yr r/t respiratory and cardiac complications |
| Trisomy 13 | Chromosomal Aberration* Platau's Syndrome-Severe deformation and mental retardation. Usually do not survive past 1 yr r/t respiratory and cardiac complications |
| Cri du Chat | Chromosomal Aberration* Deletion of short arm of #4 or #5. Infants cry resembles cry of cat (very distinctive, weak, high-pitched meow-like cry) |
| Mendelian Disorders are.... | single mutant gene disorders |
| Polygenetic Disorders are... | Multifactorial Disorders |
| Barr Body Concept | Sex Chromosome Abnormality *the inactive X* in females 1 of the X's is active and the other is inactive (a random event) aka sex chromatin |
| Turners Syndrome | Sex Chromosome Abnormality(XO) 45 chromosomes -absence of a barr body |
| Turners Syndrome Phenotype & cause | -female -nondisjunction |
| Triple X | Sex Chromosome Abnormality (XXX) 47 chromosomes -Super female -two barr bodies |
| Triple X phenotype & cause | -female -nondisjunction |
| Klinefelters Syndrome | Sex Chromosome Abnormality (XXY) 47 chromosomes -Barr body present |
| Klinefelters Syndrome phenotype & cause | -Male -nondisjunction |
| Jacob's Syndrome | Sex Chromosome Abnormality (XYY) No barr bodies |
| Jacob's Syndrom phenotype & cause | -Male -nondisjunction |
| What is thought to be the most common inherited cause of mental retardation? | Fragile X Syndrome |
| Females with Fragile X syndrome tend to have what dissabilites? | Cognitive and learning |
| If a male is diagnosed with Fragile X Syndrome what kind of screening should be done? | Family screening r/t problems with sisters have been found |
| Fragile X Syndrome | Sex Chromosome Abnormality -Fragile site on X chromosome susceptible to breakage |
| Fragile X Syndrome Phenotype | Primarily Males |
| General Characterisitcs of sex chromosome disorders | presence or absence of "Y" determines phenotype, amount of mental retardation increases with the number of extra "Xs" |
| Polydactyly | Autosomal dominant |
| Achondroplasia dwarfism | Autosomal dominant |
| Cystic Fibrosis | Autosomal recessive |
| PKU | autosomal recessive |
| Galactosemia | autosomal recessive |
| Sickle cell anemia | autosomal recessive |
| Autosomal Recessive | *PKU *Galactosemia *Sickle Cell anemia *Cystic fibrosis |
| Autosomal dominant | *polydactyly *achondroplasia dwarfism |
| X linked dominant | *hypophosphatemic vitamin D *resistant rickets |
| Hypophosphatemic vitamin D | X linked dominant |
| Resistant rickets | X linked dominant |
| X linked recessive | *hemophelia *color blindness |
| Color blindness | X linked recessive |
| Hemophelia | X linked recessive |
Created by:
jas067
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