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The new genetics in clinical practice: A brief primer
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نویسنده
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milunsky a.
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منبع
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journal of the american board of family medicine - 2017 - دوره : 30 - شماره : 3 - صفحه:377 -379
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چکیده
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Major advances in human genetics have led to the identification of 4451 genes to date with disease-carrying mutations,thereby enabling precise diagnoses of all of these monogenic disorders. limitations to the use of the new genetics do exist,however,including the recognition of genetic heterogeneity,many variants of unknown significance,and incidental diagnoses. this article reviews information to help use these advances to aid accurate diagnoses,identify carriers,and determine prenatal diagnoses,providing opportunities to avoid or prevent serious and fatal genetic disorders.
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کلیدواژه
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Genes; Genetic Heterogeneity; Medical Genetics; Mutation; Prenatal Diagnosis
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آدرس
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department of obstetrics and gynecology,center for human genetics,840 memorial drive,cambridge,ma 02139,united states,department of obstetrics and gynecology,tufts university,school of medicine,boston, United States
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Authors
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