Term
| Autosomal dominant disorders |
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Definition
| Single-gene disorders in which a defect in only one of the alleles produces the disease |
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Term
| Autosomal recessive disorders |
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Definition
| Single-gene disorders in which both parents must pass on the recessive defective gene to have a child with the disorder |
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Term
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Definition
| Any chromosome other than the sex chromosomes. Humans have 22 pairs of autosomes |
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Term
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Definition
| Involve an atypical number of chromosomes or a structural abnormality on one or more chromosomes |
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Term
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Definition
| Disorders or defects that are present at birth and may be caused by genetic problems, environmental factors, infection, or teratogenic agetns |
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Term
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Definition
| An example of trisomy in which there are three chromosomes rather than two in position 21 |
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Term
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Definition
| Refers to the manipulation of genes in microorganisms, plants, animals, and humans |
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Term
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Definition
| The total genetic makeup or complement of an individual |
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Term
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Definition
| A disorder involving insufficient production of thyroid hormone, which can be related to a developmental defect or an iron deficiency during pregnancy |
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Term
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Definition
| A graphic or symbolic representation showing the chromosomal complement of an individual |
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Term
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Definition
| An example of polysomy in which an extra X chromosome is present |
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Term
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Definition
| More complex congenital disorders that may be caused by multiple genes, by predisposing factors, or by inherited tendency |
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Term
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Definition
| The physical traits or morphology expressed by the genes of an individual |
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Term
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Definition
| A metabolic disorder caused by a gene mutation in a recessive gene |
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Term
| Polymerase chain reaction (PCR) |
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Definition
| A molecular technique capable of amplifying DNA for genetic analysis |
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Term
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Definition
| Attempt to characterize all of the proteins that are significant in the metabolic pathway for the expression of a particular allele |
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Term
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Definition
| A pair of chromosomes that contain sex characteristics/traits. X contains primarily female trait genes; Y contains primarily male ones |
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Term
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Definition
| A characterstic of an agent or other factor that is capable of causing developmental damage or destruction in a developing embryo/fetus |
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Term
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Definition
| An acronym for routine prenatal screeing for high-risk maternal infections: toxoplasmosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rubella, cytomegalovirus, and herpes |
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Term
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Definition
| An example of monosomy in which only one sex chromosome, namely the X chromosome, is present |
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Term
| X-linked dominant disorders |
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Definition
| Sex chromosome-linked, dominant gene disorders that are a common cause of mental retardation |
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Term
| X-linked recessive disorders |
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Definition
| Sex chromosome-linked, recessive gene disorders in which a heterozygous female can be a carrier |
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