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1、1.A 2-month-old Caucasian female infant isseen for a well baby visit. The mother is concerned that the child is floppy, but is uncertain, since this is her first child. Birth weight was 7 pounds 2ounces at term. Prenatal and perinatal histories are unremarkable except foroccasions in the third trime
2、ster during which the mother felt the baby kickedless frequently. The mother was 30 years old at the time of delivery. Priormedical history revealed almost continual nasal congestion. Physicalexamination revealed normal vital signs and growth parameters. Findingsincluded a slight upward slant of the
3、 palpebral fissures, extra folds of skinat the inner ocular canthi, small ears, tongue thrusting, short fifth fingersbilaterally, and a single palmar flexion crease on the left. Muscle tone was moderately decreased throughout, with a pronounced head lag. Chromosomean alysis performed upon peripheral
4、 blood lymphocytes revealed a 46, XX,t(15q;21q) karyotype. The results of chromosome analyses performed(5.0)（结果包括微微向上倾斜的睑裂，额外的褶皱的皮肤的内眼眦，小耳朵，舌头冲断，短的第五个手指两侧，和一个单一的掌褶纹的左边。肌肉是适度降低整个头部，具有明显的滞后。）A.Amniocentesis is indicated for future pregnancies, as well as peripheral blood leukocytechromosome analyses f
5、or all of the fathers first degree relatives（羊膜穿刺术是用于未来的怀孕，以及所有的父亲的一级亲属外周血白细胞染色体分析）B.The father has a mild form of Down syndromeC.The father is to blame for their daughters conditionD.There is no increased risk for having a child with Down syndrome with future pregnanciesE.There is a 1%recurrence ri
6、sk with each pregnancy2.A 14-year old girl is brought to you with lack of menarche. Physical examination finds normal breast development but the vagina ends in a blind pouch and there is no palpable uterus. Serumtestosterone is in the male range and LH is elevated. What is the most likely karyotype
7、of this child?(5.0) P74A.X,XB.X,YC.X,OD.XXYE.XXX3.A 15-year-old Caucasian male child is seen in the office due to the onset of bilateral nontender breast enlargement 2 months ago. He is doing well in school academically and is a member of the varsity basketball team. He shaves only once per week and
8、 has not yet noted a deepening of hisvoice. He has been healthy to this point, and there is no family history of similar symptoms. Physical examination revealed normal vital signs. Height is 6feet 1 inch. The upper lower segment ratio was 0.75 (decreased), and the arm span was 76 inches. Skin was fa
9、ir. There was scant facial, axillary, and pubichair. Breasts were Tanner Stage II, and genitalia were Tanner Stage I.The evaluation most likely to yield the definitive diagnosis is:(5.0)A.Chromosomeanalys is of peripheral blood lymphocytes 外周淋巴血细胞的染色体分析B.Estrogen level雌激素水平C.Measurement of the aorti
10、c root diameter by echocardiographyD.Test icularbiopsyE.Test osteronelevel4.近端着丝粒染色体之间通过着丝粒融合而形成的易位称为（）。(5.0分)A.单方易位B.串联易位C.罗伯逊易位D.不平衡易位E.复杂易位5.非整倍体的形成原因可以是（）。(5.0分)A.双雌受精B.双雄受精C.核内复制D.染色体不分离E.核内有丝分裂6.A cytogenetic term that refers to a mitotic cell that contains twice the normal number of chromosom
11、es is:(5.0分)A.endoreduplicatedB.diploidC.endoreduplicatedD.tetraploid7.Which of the following could produce an XY female?(5.0分)A.Point mutationin the Sry geneB.Deletion of the Sry geneC.Translocation ofthe Sry gene to the X chromosome during meiosis in the fatherD.All of the above8.Which of the foll
12、owing isnottrue of Fragile X syndrome?(5.0分)A.It can be diagnosed using a karyotypeB.It is associated with methylationC.It is caused by a trinucleotide repeat expansionD.It displaysnearly 100% penetrance （与CGG重复次数有关）9.Each of the following chromosomeabnormalities involves a 20 megabase region of the
13、 long arm of chromosome 5(5q). Which abnormality is mostlikely to cause severe disease?(5.0分)A.Duplication of the regionB.Deletion of theregionC.A balanced translocation involving the region (i.e., in the translocation carrier)D.Pericentricinversion10.If an eneuploid with a karyotype that is 2N+1 ha
14、s 9 chromosomes, what is the normal haploid number of this species?(5.0分)A.10B.9C.8D.5E.411.Which of the followingtechniques was mostly used to detect a trisomy?(5.0分)A.SouthernblottingB.RFLPC.FISHD.PCR-SSCP12.Which of the following chromosomal aberrations can be of either sex:(5.0分)A.XXYB.XYYC.tris
15、omy 21D.monosomic X13.You are asked to evaluate a 15-year-oldadolescent girl for primary amenorrhea. She has been healthy but has had long-standing short stature. No breast budding was reported. Her mother experienced menarche at age 11 years and has had regular menses. Physical examination revealed a Tanner I female with mild pterygium colli, widely spacednipples, and cubitus valgus bilaterally. Height is 58 inches (5thpercentile). Chromosome analysis of peripheral blood lymphocytesrevealed a 45, X karyotype. You would advise the patient that she
