Question Genetics

8/13/2019 Question Genetics

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C Fragile X syndrome

D Phenylketonuria

E Down sydrome

Question 11

Of the following statements regarding an autosomal recessive condition, which is the

LEAST accurate:

A Heterozygotes do not usually manifest the disease.

B Spontaneous new mutations are infrequent.

C The onset of the condition is typically later in life.

D Gene expression is often uniform, especially in families.

E Genes coding for enzymes are typically implicated.

Question 14

Features of Down syndrome may include all of the following EXCEPT:

A Greater frequency with advanced maternal age

B Mental retardation

C Ventricular septal defect

D Polydactyly

E Dementia similar to Alzheimer's disease

Question 15

The greatest risk for fetal malformation through abnormal organogenesis will occur:


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A In a 19-year-old primagravida during labor and delivery

B During fertilization of the ovum

C During the third trimester of pregnancy

D In a 40-year-old pregnant female with oligohydramnios

E During the first trimester of pregnancy

Question 17

A baby is found within the first year of life to have developed hepatic cirrhosis,

cataracts, and mental retardation. Laboratory findings include reducing substances inthe urine along with hypoglycemia. These findings are most consistent with:

A von Gierke's disease

B Marfan's syndrome

C Galactosemia

D Congenital rubella

E Phenylketonuria

Question 18

An infant is found to have an elevated sweat chloride. One of three other siblings has

a similar finding. Which of the following findings was most likely to have been

present at birth:

A Pneumonia

B Hyperglycemia

C Meconium ileus


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D Right heart failure

E Infertility

Question 19

A 10-year-old child has joints that show marked hypermobility, and her skin is

hyperextensible. These features are most suggestive of:

A Marfan's syndrome

B Osteogenesis imperfecta

C Ehlers-Danlos syndrome

D Von Recklinghausen's disease

E Xeroderma pigmentosa

Question 21

A small, infertile woman with a webbed neck is most likely to have which of the

following karyotypes:

A 47, XXX

B 45, X

C 46, XX

D 47, XXY

E 46, XX / 47, XXY

Question 27

Diagnosis of new cases of cystic fibrosis, particularly when there is a negative family

history, is best accomplished through use of:


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A Determination of sweat chloride concentration

B DNA probe for the CF gene on chromosome 7

C DNA linkage analysis

D Stool fat concentration

E Spirometry

Question 33

A 45-year-old female with type I diabetes mellitus delivers a term baby with mildbrachycephaly, bilateral simian creases, prominent epicanthal folds, and a heart

murmur on physical examination. The baby's karyotype is most likely to show:

A 45 X

B 47 XXY

C 47 XY, +21

D 47 XY, +13

E 47 XX, +18

Question 38

A 47 XX, +13 karyotype in a newborn is most often associated with which of the

following findings:

A Oligohydramnios

B Cystic hygroma of the neck

C Polydactyly


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D Hepatic fatty change

E Neural tube defects

Question 68

A "triple screen" consisting of testing maternal blood for alphafetoprotein (AFP),

human chorionic gonadotropin (hCG), and estriol is performed in the second trimester

on a woman who is 43 years old. The values obtained for AFP are are low and for

hCG are high. These findings suggest an increased risk for a fetus with:

A A neural tube defect

B Erythroblastosis fetalis

C Down syndrome

D Neuroblastoma

E Cystic fibrosis

Question 63

Cystic fibrosis is most often associated with which of the following lesions seen in an

affected newborn:

A Hemolysis

B Meconium ileus

C Intraventricular hemorrhage

D Cardiomegaly

E Cirrhosis


7/10

Question 58

Which of the following conditions is LEAST likely to be present in a neonate liveborn

at term:

A Phenylketonuria

B HIV infection

C Cystic fibrosis

D Tay-Sachs disease

E Trisomy 16

Questions 54 and 55: Click on the checkbox first, then the lettered item:

(54) An 18-month-old boy is found to have an elevated sweat chloride test.

(55) A newborn is found to have meconium ileus.

A Gaucher's disease

B Phenylketonuria

C Cystic fibrosis

D Galactosemia

E Tay-Sachs disease


(52) Aortic dissection occurs in a tall 31-year-old male with long fingers.


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(53) A 28-year-old female with multiple brown skin macules and skin nodules

develops a malignant neoplasm in the right wrist region.

A Down's syndrome

B Neurofibromatosis

C Tay-Sachs disease

D Marfan's syndrome

E Von Gierke's disease


(50) A retroperitoneal mass is present on MRI scan in a 3-year-old boy.

(51) A cerebellar mass is seen by CT scan in an 8-year-old girl.

A Melanoma

B Squamous cell carcinoma

C Adenocarcinoma

D Astrocytoma

E Wilm's tumor


(48) An 18-month-old child has increased hexosaminidase A in serum.

(49) Cultured fibroblasts from amniocentesis show decreased sphingomyelinase

activity.

A Marfan's syndrome


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B Tay-Sachs disease

C Gaucher's disease

D Phenylketonuria

E Niemann-Pick disease


(46) Postpubertal mentally retarded male with fragile X syndrome.

(47) Phenotypic female with 46 XY karyotype.

A Enlarged testes

B Small testes

C Cryptorchid testes

D Absent testes

E Ovotestes


(44) At birth, a stillborn fetus is noted to have micrognathia, overlapping fingers,

horseshoe kidney, and rocker-bottom feet.

(45) A stillborn female fetus is noted to have aortic coarctation, cystic hygroma,

and lymphedema.

A 45 X

B 47 XY, +18

C 69 XXX


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D 47 XX, +13

E 46 XX, -14, + t (14q 21q)

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