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10 Cards in this Set
- Front
- Back
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Define Zygote. |
When there is fusion of the chromosomes from the sperm and ovum into a single fertilized cell. |
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What are autosomes? |
These are the 44 non sex chromosomes present in the cell nuclei. |
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When will autosomal dominant disorders be manifested/ |
This will occur if there is a single copy of the abnormal gene present in the individuals genotype. When one parent is affected by a dominant disorder, any of the children have a 50% chance of inheriting the condition. |
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List 2 conditions transmitted by a dominant gene. |
Achondraplasia and Huntington's disease. |
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What is Neurofibromatosis/ |
This results in small tumors that develop from the sheaths of peripheral and cranial nerves. |
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When is an autosomal recessive disorder present? |
These are present only if there are 2 copies of the abnormal gene, on each of a pair of chromosomes. These diseases may occur from two normal parents, one of each that carry a recessive copy. |
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List four diseases that are considered autosomal recessive disorders. |
Thalessemia Phenylketonuria Sickle cell anemia Cystic fibrosis |
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Sex linked disorders are nearly always transmitted on the X chromosome. True/false |
True. These are also called X linked conditions. Hemophilia, Muscular dystrophy and color blindness are X linked conditions. Females have 2 copies of the X chromosome and males have only one. women often transmit X linked disorders which their sons suffer from. |
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What is another term for Down's syndrome? |
Trisomy 21. This suggests that there are three of the 21st chromosome present as opposed to the normal two. There is a total number of 47 chromosomes. |
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What is Kleinfelter's syndrome? |
This is identified as XXY syndrome. Boys have small testes, are infertile and may have some breast development, all caused by an additional X chromosome. |
