A.The clinical diagnosis may or may not be specific
B.The inheritance mode is not clear for the isolated cases
C.The progression(進(jìn)展) of condition can take several decades
D.Locus heterogeneity(位點(diǎn)差異性)
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A.Chromosome banding
B.FISH
C.Mass spectrometry(MS)
D.Next Generation Sequencing(NGS-二代測序)
A.Clinicians should have educational materials about the disease and the test
B.Clinicians should have test result report forms that explain the test and the patient’s testresult
C.Clinicians should have collection of data on phenotype and genotype
D.Essential elements of genetic testing are easy to be acquired(獲得)
A.Structure of cells and organs
B.Developmental gene expression
C.Transport and storage
D.Control of growth and differentiation
E.All above
A.100,000genes
B.80,000genes
C.20,000genes
D.15,000genes
A.獲得并解釋個(gè)人和家庭的病史、發(fā)育史與生育史
B.分析出遺傳方式以及遺傳疾病和先天缺陷的發(fā)生風(fēng)險(xiǎn)與再發(fā)生風(fēng)險(xiǎn)
C.解釋遺傳疾病的病因、病史、診斷與應(yīng)對措施
D.為了優(yōu)生指示曾育過出生缺陷患兒的夫婦別再生育了
E.說明并解釋基因檢測結(jié)果與其它診斷依據(jù)。
最新試題
視網(wǎng)膜中包括兩種感光細(xì)胞,分別是:()
以下哪一項(xiàng)不是乳腺癌高危因素:()
視網(wǎng)膜色素變性的三個(gè)典型的臨床癥狀為:()
苯丙酮尿癥血液和尿液中增高的是()
男性不可能患乳腺癌。
Leigh綜合征,又稱為亞急性壞死性腦病,是一種進(jìn)行性神經(jīng)退化性疾病。
Leigh綜合征的遺傳模式可以為:()
視網(wǎng)膜色素變性是一種視網(wǎng)膜感光細(xì)胞或色素上皮細(xì)胞(RPE)功能受損,從而導(dǎo)致視力進(jìn)行性缺失的一種視網(wǎng)膜變性疾病。
Leigh綜合征確診的金標(biāo)準(zhǔn)為:()
以下哪項(xiàng)技術(shù)不可用于視網(wǎng)膜色素變性的分子診斷?()