Term
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Definition
| production of inhiboitor of brain cell metabolism (autosomal-dominant) |
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Term
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Definition
| failure of chloride ion transport mechanism (autosomal recessive) |
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Term
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Definition
| abnormal hemoglobin molecules, impaired blood circulation, organ damage (autosomal recessive) |
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Term
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Definition
| defective form of enzyme hexosainidase A (autosomal recessive) |
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Term
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Definition
| defective form of enzyme phenylalanine hydroxlase (autosomal recessive) |
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Term
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Definition
| failure of blood to clot,(xlinked recessive) |
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Term
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Definition
| wasting away of muscles, muscle fibers degenerate (xlinked recessive) |
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Term
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Definition
| trisomy-21, mental retardation, characteristic facial features, muscle weakness, heart defects, short stature, result of nondisjuntion |
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Term
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Definition
| only monosomy in humanes, in sex chromosomes, only X, infertile, female appearance |
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Term
| amniocentesis/ chorionic villi sampling |
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Definition
| take sample of amniotic fluid/chorionic villi and make a karyotype to find genetic defect possibilities |
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