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18 Cards in this Set
- Front
- Back
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examples of autosomal dominant disorders: ?, ?, ?'s disease
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(acronym=No Ones Home)
Neurofibromatosis, Osteogenesis Imperfecta, Huntington's disease |
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Autosomal RECESSIVE traits require ? genes for the trait to be expressed. The parents may be heterozygous carriers that contribute a defective gene . Each parent can be heterozygous CARRIERS that do not express the trait, however together contribute a defective ? gene.
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2,
recessive |
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Two mutated copies of the gene are present in each cell when a person has an autosomal ? disorder. An affected person usually has unaffected parents who each carry a ? copy of the mutated gene (and are referred to as carriers). Autosomal recessive disorders are typically not seen in every ? of an affected family.
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recessive,
single, generation |
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With autosomal recessive traits and autosomal dominant traits males and females are affected ?
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equally
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The percentage of children of 2 unaffected Autosomal Recessive heterozygous parents that will be affected is ?%. Affected individuals partnered with normal/unaffected individuals will have ? children and ?% of them will be carriers. There usually is no family ?
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25%,
normal, 100%, Hx |
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examples of autosomal recessive disorders include: ?,?,?,?
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acronym-Santa-Counts-The-Presents
Sickle Cell anemia, Cystic Fybrosis, Tay- Sachs, Phenyl KetonUria |
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Females are ?-? and Males are ?-?
With sex linked inheritance the defective gene is carried on the ? chromosome. |
XX,
XY, X |
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Sex linked dominant trait: This disorder occurs whenever the gene is present on the ? chromosome and it requires only ? gene to exhibit the disorder. With an affected male ?% of his daughters will be affected and ?% of his sons. If the female is the affected person then ?% of sons and ?% of daughters are affected. Normal children of an affected parent will have ? children. There is a family ?
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X, one,
100%, 0%, 50%, 50%, Hx |
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examples of sex linked dominant traits are: ?,?,?
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(Harry Potter's Picture)
Hypophosphatemia Rickets(vitamin D resistant), Polycystic Renal Disease, Polydactyly |
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Sex linked recessive traits: A female may be ? or ? for a trait because she has 2 ? chromosomes.
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heterozygous, homozygous, X
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X linked recessive disorders manifest in all ? who carry the gene they also carry only 1 ? chromosome. There is no countreacting X thus they will be ? This is only passed along by a ? carrier. There is a 50% chance that a carrier mother will have an ? son and a 50% chance that she will have a ? daughter.
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males,
X, affected, Affected, Carrier |
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Sex linked recessive with affected Male: There is a 0% chance that an affected male will have an affected ?
There is a 100% chance with each pregnancy that an affected male will have a carrier ? |
son,
daughter |
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Examples of Sex linked recessive traits include: ?, ?, ?
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(Acronym=He Counts Dollars)
hemophelia A & B, Colorblindness, Duchenne's Muscular Dystrophy, |
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There are two types of twins ? and ?
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Identical,
Fraternal |
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1 egg monozygotic/MZ twins, share the same ? When the embryo divides into 2 separate structures before the trophoblast has formed it is called a ? pregnancy. The fetuses do not share the same ? or ? and genetic studies are required to validate ? These twins are ?
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Genotype,
Dichorionic, chorion, placenta, monozygotic, identical |
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When 2 eggs are fertilized this is known as a ? pregnancy. These fetuses will share the same genetic ? as any sibling born to the same parents born on the same day or years apart. These twins are ? There is an increased incidence of this in ? americans, advanced maternal ? and ?, family ?, and pts with good ?
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Dizygotic/DZ,
relationship, Fraternal, African, age, parity, Hx, nutrition |
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When a person has two identical alleles for a genetic trait this is considered ?
When a person has two different alleles for a genetic trait this is considered ? |
Homozygous,
Heterozygous |
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An alternate form of a gene is an ?
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Allele
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