Patho Chapter 2
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Which gentetic disease is caused by an abnormal karyotypes??
Which is not a characteristic of Downs Syndrome?
it is a genetic error in metabolism
Cri-du-chat syndrome is an abnormality of chromosomal structure involving:
The individual's karayotype lacks a homologous X-chromosome hand has only a single X chromosome presisent which of the statements are not true?
The karyotype is 46, XY
If homologous chromosomes fail to separate during meiosis the disorder is ??
Cystic fibrosis has been mapped to chromosome ?
In autosomal dominant inherited disorders?
affected persons mating with normal person have a 50% risk of having an affected offspring
In X linked recessive inherited disorders?
affected males have normal sons, sons of female carriers have a 50% risk of being affected, and the affected female may transmit the geneto both sons and daughers.
What is not an autosomal dominant disease?
Duchenne muscular dystrophy and pyloric stenosis
When enviromental influences cause varied phenotypic expressions of genotype, the result is?
a multifactorial trait
Which likely is not a multifactorial inherited disorder??
the basic units of inheritence and are composed of DNA and are located on chromosomes
What is a mutation?
an inherited alteration of genetic material
What causes mutations?
What is transcription?
it is the process by which DNA specifies a sequence of mRNA
What is translation?
it is the process by which RNA directs the syntheses of polypeptides. This process takes place in the ribosomes which consist of proteines and rRNA
What do human cells consist of ?
Diploid somatic cells (body) ad haploid gametes (sperm and egg)
How many chromosomes do humans have?
23 pairs, 22 of these pairs are autosomes and the remaing consist of the sex chromosomes
What is Trisomy?
it is a type of aneuploidy in which one chromosome is present in three copies in somatic cells. A partial trisomy is one which only part of a chromosome is present in three copies.
Patho Chapter 2