遗传学试题资料：遗传诊断

1、1. A 13-year-old African-American female presents for her annual well child check. The parents report there is a significant family history of cancer. The family history reveals that 2 of the patients maternal aunts were diagnosed with breast cancer in their late 30s. One of these aunts recently had

2、 genetic testing for the BRCA1 and BRCA2 genes. The results revealed a mutation in the BRCA2 gene, which was also identified in the other affected aunt. The family wants their daughter tested for this mutation. What is the most appropriate recommendation in this case?(7.0分)A.Complywith testing only

3、after a copy of the results identifying the familial mutationis obtainedB.Complywith the parents request, as results may alter medical managementC.Recommendthe patient start mammogram screening at age 25D.Refuseto test the patient; it is unnecessary because the patients mother does nothave cancerE.R

4、efuseto test the patient until the child is an adultA.符合测试后才得到一份确认家族性突变的结果B.符合父母的要求，结果可能会改变医疗管理C.推荐病人在25岁开始钼靶筛查D.拒绝测试病人；没有必要因为病人的母亲没有癌症E拒绝测试病人直到孩子成年40-50岁的女性每隔一年至一年半到专业的医疗机构做一次这种乳腺专科规范的查体和B超检查，做钼靶的频率要听从专业医生的建议；50岁以上建议每年做一次B超和钼靶的检查；随着年龄增加如70岁以上，检查的频率会下降；2040岁的女性也应每23年检查一次，但这一年龄段的钼靶检查应少用或不用。如果属于高危人群，还

5、需要缩短检查间隔。2. A 36-year-old 2nd gravida mother hashad amniocentesis done because there is a positive family history of cysticfibrosis and the mother has gestational diabetes and polyhydramnios. Amnioticfluid analysis shows:(1)-fetoprotein level is raised (2)Acetyl cholinesteraselevel is raised (3)-Hum

6、an chorionic gonadotropin level is normal What is themost likely diagnosis?(7.0分)36岁的第二例孕妇的母亲有羊膜穿刺术因为有阳性家族史和囊性纤维化的母亲有妊娠糖尿病，羊水过多。羊水分析表明：（1）甲胎蛋白水平的提高（2）乙酰胆碱酯酶水平的提高（3）-人绒毛膜促性腺激素水平正常A.Downs syndrome 21B.Edwards yndrome 18C.Patau syndrome 13D.Neuraltube defect神经管缺陷E.Esophagealatresia 食管闭锁3. A 30-year-old

7、 Caucasian woman electsa chorionic villi sampling (CVS) procedure secondary to a First Trimester Test that was screen positive for Down syndrome, risk 1 in 75. She has a history of polycystic ovaries and is obese. The CVS revealed a normal female karyotype, and the family was given the good news. A

8、level II ultrasound 4 weeks later revealed normal fetal anatomy with the fetal gender visualized as male. Which of the following is the most appropriate and direct follow up testing to clarify the true gender of the fetus?(7.0分)一个30岁的白人妇女选举绒毛膜绒毛取样（CVS）对早孕测试，为唐氏综合征筛查阳性的二次的程序，在75的1的风险。她有多囊卵巢的历史和肥胖。CVS

9、显示正常女性核型，家庭得到了好消息。4周后，二级超声显示正常胎儿解剖与可视化为男性胎儿性别。下列哪项是最合适的和直接的后续测试澄清胎儿的真实性别？A.Amniocentesis for fetal karyotypingB.Maternal genetic testing for congenital adrenal hyperplasiaC.Paternal karyotypingD.21-hydroxylasetesting on reserved chorionic villi cellsE.Repeat level II ultrasoundA羊水的胎儿染色体核型分析; B母亲的基因检

10、测先天性肾上腺增生C父系染色体核型分析D在保留的绒毛细胞d.21-羟化酶测试E肠重复II级超声4. You are seeing a baby for her 1-monthwell-child check. She has been diagnosed with achondroplasia by a geneticist. There is no family history of achondroplasia, and the parents are unaffected. The couple was told that there is a 1-2% recurrence risk

11、to a subsequent pregnancy. What is the best answer to explain why the recurrence risk to this couple is increased above the general population incidence of achondroplasia (1in 20,000) when the parents are unaffected?(7.0分)A.GonadalmosaicismB.The parents themselves may be mosaic for the conditionC.Th

12、e possibility of consanguinityD.The possibility of non paternityE.The possibility of skewed X-inactivationA.性腺嵌合体B.家长自己可以拼接条件C.血缘关系的可能性D.非父子关系的可能性E.扭曲的X染色体失活的可能性5. Your 35-year-old gravida 3 para 2Caucasian patient has just undergone a chorionic villi sampling (CVS) secondaryto a prior pregnancy aff

13、ected with trisomy 21. Her CVS results are normal,46,XX. The pregnancy history is significant for hypothyroidism, well-controlled with 88 micrograms of levothyroxine daily. She had hyperemesis that resulted in a brief hospitalization for intravenous fluids in the first trimester.Why should this pati

14、ent undergo maternal serum screening in the second trimester of this pregnancy?(7.0分)你35岁的孕妇3第2的白人患者经历绒毛膜绒毛取样（CVS）继发于妊娠21三体的影响。她CVS结果是正常的，46，XX。妊娠史有甲状腺功能减退，88毫克的甲状腺素的日常控制。她吐，导致在第一孕期静脉输液的一个简短的住院。为什么要这样患者母体血清中的第二孕期筛查？A.Assessthe risk for trisomy 18B.Confirmationof CVS resultsC.Determinethe risk for op

15、en fetal defectsD.Ruleout a twin pregnancyE.Ruleout maternal cell contamination in the CVS resultA18三体风险评估（21三体风险评估）。B.CVS结果确认C.对于开放式胎儿缺陷确定风险D.排除双胎妊娠E.排除在CVS结果母体细胞污染【1 第一孕期唐氏症筛查这项检查主要在孕妈妈怀孕第1013+6周时，应用“超声波”和“抽血”两种筛检方式。黄旭光医生说，通过超声波，可以清楚地测量胎儿的颈部透明带厚度，加上验血，测量母体血清中的血浆蛋白A值和绒毛膜促性腺激素等数值，来估算胎儿罹患唐氏症的风险。2 第二孕

16、期唐氏症筛查孕妈妈在第1520周时接受抽血，医院会检测血清中的甲型胎儿蛋白、绒毛膜促性腺激素、游离雌三醇和抑制素等值，再配合孕妈妈的年龄、怀孕周数和体重，计算出胎儿罹患唐氏症的风险。3 绒毛膜取样术黄旭光医生表示，孕妈妈要进行此项检查时，务必先与医生仔细讨论，因为这属于侵入性检查，即需从发育中的胎盘取得一些细胞样本。他举例说明，当孕妈妈接受第一孕期筛检后，若胎儿的颈部透明带超过 3毫米，可考虑直接做绒毛膜取样来检验染色体。不过，此项结果要14天后才能知道。4 羊膜穿刺检查这也是属于侵入性的检查，但其风险比绒毛膜取样术来得较小。黄旭光医生表示，透过抽取孕妈妈子宫内羊膜腔的羊水，进行检测，能得知胎

17、儿的染色体是否有异常状况，进而得知有无可能患唐氏症。需要14天才能得知结果，其准确率高达99%以上。5 唐氏筛查的注意事项筛查时间：最佳时间是在孕1520周。检查前的准备：做唐氏筛查时无需空腹，但与月经周期、体重、身高、准确孕周、胎龄大小有关，最好在检查前向医生咨询其他准备工作。】筛查病种甲胎蛋白（AFP）人绒毛膜促性腺激素（B-HCG）游离雌三醇（ME3）唐氏综合征低高低18三体综合征低低低开放性神经管缺陷高6. A healthy couple from the Dominican Republic presents at the end of the first-trimester of

18、 their first pregnancy. The pregnancy history is thus far unremarkable. The couple is highly concerned because they recently learned they are first cousins. They are contemplating pregnancy termination and are seeking counseling regarding the risks of adverse pregnancy outcome. What will provide the

19、 most comprehensive risk assessmentin formation?(7.0分)从多米尼加共和国一个健康的夫妇提出了在他们的第一次怀孕的头三个月。妊娠史是迄今为止不起眼。这对夫妇的高度关注，因为他们最近才知道他们是表兄弟。他们正在考虑终止妊娠，并寻求咨询相关的不良妊娠结局的风险。如何提供最全面的风险评估的信息吗？A.A detailed family historyB.A mniocentesisor chorionic villi sampling to assess the fetal karyotypeC.Karyotype analysis on both

20、parentsD.Amaternal serum screening testE.Targeted level II ultrasound to assess for fetal anomaliesA一个详细的家族史B.羊膜穿刺术或绒毛膜绒毛取样评价胎儿染色体核型C在双方父母的C染色体核型分析D.母血筛检试验E如有针对性的二级超声评估胎儿异7. A Caucasian female infant has a positive newborn screen for cystic fibrosis. Genetic testing has identified a mutation in each

21、 of the patients CFTR genes. Parental studies confirmed that the patients mother and father are each carriers. The couple is concerned about their two other children and their risks of being carriers of cystic fibrosis. What is the risk to this patients unaffected siblings to be cystic fibrosis carr

22、iers?(7.0分)一个白人女性的婴儿有一个积极的新生儿筛查囊性纤维化。遗传测试已确定在每个病人的CFTR基因突变。家长的研究证实，患者的母亲和父亲都是携带者。这对夫妇是关心他们的两个孩子和他们的风险是囊性纤维化的概率。患者的兄弟姐妹不患囊性纤维化（表型正常），请问这些人的携带的概率是多少？ ARA.1 in 4B.1 in 3C.1 in 2D.2 in 3E.3 in 48.对孕妇及胎儿损伤最小的产前诊断方法是（）(7.0分)A.胎儿镜检查B.羊膜穿刺术C.B型超声扫描D.绒毛取样9. A 17-year-old African American adolescent is pregna

23、nt for the first time. She has visited you in the adolescent clinic because she has sickle cell trait (Hgb AS) and wonders what the risk is of having a child with sickle cell disease. The father is a 19-year-old African American man, with whom she has been in a monogamous relationship and who does n

24、ot have sickle cell disease. You should advise:(7.0分) ARA.Assuming a carrier frequency of 1/14 among African Americans in the United States, there is a 1/112 chance this pregnancy will be affected.B.Proceed directly to amniocentesisC.nor the father has sickle cell disease, the product of this pregna

25、ncy cannot be affected.D.That the carrier status of the father of the pregnancy needs to be determined before you can accurately answer her question.E.There is a 1 in 4 chance that the product of each pregnancy will have sickle cell disease.A假设一个携带频率的1/ 14，在美国的非裔美国人，有1/ 112的机会怀孕会影响。B.直接进行羊膜腔穿刺术（染色体）

26、c.既然父亲没有镰状细胞病，这不影响妊娠产物。D因为怀孕的父亲之前需要你能准确地回答她的问题确定承运人身份。E如有一个1/4的机会，每一个怀孕的将有镰状细胞病。10. Which of the following sex chromosome linked diseases has the clinical feature of short stature, streak gonads, and degradation of oocytes by 2 years of age?(8.0分) 条索状性腺，2岁的卵母细胞退化A.Wiskott-AldrichsyndromeB.Turner syn

27、dromeC.Klinefelter syndromeD.Duchenne-Becker muscular dystrophyE.Hemophilia A维斯科特-奥尔德里奇综合征(Wiskott-Aldrichsyndrome,WAS)即湿疹血小板减少伴免疫缺陷综合征,是一种少见的T细胞、B细胞和血小板均受影响的X-连锁隐性遗传性疾病11.Availability of DNA testing for many single disease traits has allowed routine prenatalscreening of couples for disorder spreval

28、ent in their ethnic group.Which of the following genetic disorders has a similar incidence in different ethnic groups and would not be subject to different criteria forscreening? 下列哪种遗传性疾病，在不同的民族中发生率相似，不受制于筛选不同的标准(7.0分)A.Thalassemias .地中海贫血 地中海沿岸和东南亚发病B.Cystic fibrosis 囊性纤维化 白人C.Tay-Sachs disease 犹太

29、人D.Down syndrome12.A couple seekmolecular testing for prenatal diagnosis of an autosomal recessive condition. The haplotype in coupling with the mutation is found in both parents by analysis of the parents and the affected child. Analysis of chorionic villustissue from the fetus reveals that the fet

30、us inherited only the maternal haplotype in coupling with the mutation. You would counsel them:(7.0分)A.The fetus could be affected if recombination occurred in the father.B.The fetus is most likely a carrier.C.The fetus could be homozygous unaffected if recombination occurred in the mother.D.All of t