(44) A 29-year-old G2 P1 woman gives birth at 30 weeks gestation to a stillborn male fetus. On examination this fetus is noted to have a small face with micrognathia, overlapping fingers, an omphalocele, a horseshoe kidney, and rocker-bottom feet. Which of the following karyotypes is this fetus most likely to have?
(45) A 21-year-old primigravida gives birth to a stillborn female at 19 weeks gestation. The macerated fetus shows marked generalized hydrops fetalis. There is a large posterior septated cystic hygroma of the neck. Autopsy reveals internal anomalies including aortic coarctation and a horseshoe kidney. Which of the following karyotypes is this fetus most likely to have?
A 45 X
B 47 XY, +18
C 69 XXX
D 47 XX, +13
E 46 XX, -14, + t (14q 21q)
F 47 XXY
G 47 XXX
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(46) A 15-year-old boy exhibits mental regardation. Chromosome analysis reveals a 46, XX, fra(X) karyotype. Which of the following findings on physical examination is most likely to be present?
(47) A 20-year-old woman has a workup for infertility. She has never had a menstrual period. On physical examination she has a short, blind-ended vagina. but normal external genitalia and normal breast development. She is found to have a 46 XY karyotype. Which of the following physical examination findings is she most likely to have?
A Enlarged testes
B Small testes
C Cryptorchid testes
D Absent testes
E Ovotestes
(48) An 18-month-old child has exhibited poor neurologic development and has not met developmental milestones. On physical examination there is a 'cherry red' macula. Laboratory testing reveals decreased hexosaminidase A in serum. Which of the following inherited diseases is this child most likely to have?
(49) A 22-year-old primigravida has an amniocentesis performed at 18 weeks gestation because of a family history of a congenital disease. Cultured fibroblasts show decreased sphingomyelinase activity. Which of the following diseases is most likely to be present?
A Marfan syndrome
B Tay-Sachs disease
C Gaucher disease
D Phenylketonuria
E Niemann-Pick disease
(50) A 23-year-old primigravida gives birth at term to a girl infant. She has a normal weight and size for term gestation.On physical examination the infant has a 6 cm mass over the sacrococcygeal region. No other abnormalities are noted. A plain film radiograph shows that the mass has areas of calcification. Which of the following neoplasms is this infant most likely to have?
(51) An 8-year-old girl has exhibited increasing ataxia for the past 3 months. A CT scan of the head shows a left cerebellar hemispheric 3.5 cm cystic mass. Which of the following neoplasms is this girl most likely to have?
A Melanoma
B Squamous cell carcinoma
C Adenocarcinoma
D Astrocytoma
E Teratoma
(52) A 31-year-old woman has the sudden onset of chest pain. On examination she is tall and has abnormally long fingers. She also has also has loss of vision from a subluxation of the crystalline lens of the right eye. A mid systolic click is audible upon auscultation of the chest, and an echocardiogram reveals a floppy mitral valve. A chest CT scan shows an aortic dissection involving a dilated proximal aorta 7 cm from the aortic valve. Her brother and his cousin are also affected by these conditions. She is most likely to have an abnormal allele for which of the following genes?
(53) A 28-year-old woman is noted to have multiple 1 to 3 cm light brown skin macules over her trunk, arms, and legs. She also has multiple 0.2 to 0.7 cm firm skin nodules scattered in the same distribution. She develops a malignant neoplasm in the soft tissue of the right wrist region. She is most likely to have an abnormal allele for which of the following genes?
A Dystrophin
B NF-1 protein
C Collagen
D Fibrillin
E Spectrin
(54) An 18-month-old boy has normal development. No abnormalities are noted on physical examination. Laboratory studies show an elevated sweat chloride test. Which of the following inherited diseases is he most likely to have?
(55) A newborn male born at term develops abdominal distension with lack of stool in the first week of life. An ualtrasound scan shows meconium ileus. Which of the following inherited diseases is he most likely to have?
A Gaucher disease
B Phenylketonuria
C Cystic fibrosis
D Galactosemia
E Tay-Sachs disease
A 34-year-old G3 P2 woman gives birth at 28 week gestation to a stillborn girl. On examination this fetus is noted to have multiple anomalies including a large abdominal wall defect to the left of the umbilical cord. The cord is 10 cm long. Through the defect is herniated small and large bowel, a portion of liver, and left kidney. There is marked scoliosis. A fibrous band runs from the upper edge of the defect across the chest and through a cleft in the mid-face. The left arm is absent. Which of the following conditions is this fetus most likely to have?
A Limb-body wall complex
B Trisomy 18
D VATER association
E Maternal folate deficiency
Soon after birth, a term infant develops tetany with marked hypocalcemia. This is treated, but at one month of age, a systolic heart murmur is heard on auscultation of the chest. Later in infancy, it is noted that the baby has been almost constantly ill with one infection after another, including respiratory syncytial virus, Candida, and Pneumocystis carinii (jirovecii) diagnosed. Which of the following conditions is this infant most likely to have?
A DiGeorge syndrome
B Common variable immunodeficiency
C Acquired immunodeficiency syndrome
D Chronic granulomatous disease
E Marasmus
A 23-year-old woman has the sudden onset of severe lower abdominal pain. An ultrasound reveals a 4 cm mass involving the right fallopian tube. The uterus is normal in size. There is no vaginal bleeding, but a culdocentesis (insertion of a needle through the vaginal vault into the pelvic peritoneal cavity) yields fresh blood. A urine pregnancy test is positive. Which of the following conditions has most likely occurred to produce these findings?
A Tubo-ovarian abscess
B Abruptio placenta
C Ectopic pregnancy
D Hydatidiform mole
E Adenocarcinoma
A 24-year-old G2 P1 Caucasian woman has an ultrasound performed at 20 weeks gestation that reveals a hydropic fetus, but no abnormalites of fetal internal organs. The baby is born at 35 weeks gestation and is noted to have a neonatal bilirubin of 10.2 mg/dL. The neonate improves with transfusion therapy. Her previous child was born at term and did not suffer these problems. What is the mechanism by which these findings in her second pregnancy were most likely produced?
A Iron deficiency
B Hepatitis B infection
C Abnormal globin chain synthesis
D Placental abruption
E Antibodies crossing the placenta
A 30-year-old primigravida is large for dates. On examination she appears to be at 20 weeks gestation, but no fetal heart tones are ausculated. An ultrasound examination reveals a "snowstorm" effect, with no fetus visualized. Her serum hCG level is markedly elevated. Two days later she passes large quantities of grape-like vesicles averaging 1 to 2 cm in diameter, but no fetal parts are passed. Which of the following is the most likely diagnosis?
A Placenta previa
B Triploidy
C Abruptio placenta
D Complete mole
E Gestational diabetes
A 33-year-old G3 P2 woman develops headaches and nausea at 26 weeks gestation. On physical examination she has a temperature of 37 C, pulse 88/minute, respirations 19/minute, and blood pressure 168/108 mm Hg. A urinalysis shows 4+ proteinuria. Later, at 36 weeks gestation, she suffers a seizure, and emergent delivery is done. The baby's Apgar scores are 7 and 9 at 1 and 5 minutes. Which of the following conditions is most likely to affect the baby?
A Multiple congenital anomalies
B Intrauterine growth retardation
C Severe anemia
D Sudden infant death syndrome
E Hyaline membrane disease
A clinical study is performed of neonates to determine the outcome of complications that occur during the neonatal period. Some neonates born at term are found to have no congenital anomalies. They have a complication noted at birth which resolves in the first week of life. Which of the following conditions are these neonates most likely to have?
A Intraventricular hemorrhage
B Hyaline membrane disease
C Cephalhematoma
D Erythroblastosis fetalis
E Phenylketonuria
A 17-year-old primigravida has an uncomplicated pregnancy and delivers a 1750 gm male at 38 weeks gestation. The baby has no congenital anomalies noted. However, the child exhibits learning disabilities after starting school. Which of the following maternal conditions is most likely to cause these findings?
A Trisomy 21
B Maternal cigarette smoking
C Premature rupture of membranes
D Congenital rubella infection
E Iron deficiency anemia
A 20-year-old woman has not noted fetal movement by 18 weeks gestation. An ultrasound scan reveals amnionic bands with gastroschisis and amputation of digits from the extremities. There is a cleft involving part of the head with exencephaly. The pregnancy is terminated at 19 weeks gestation. Which of the following conditions is this fetus most likely to have?
A Early amnion disruption
C Oligohydramnios with bilateral renal agenesis
D Gaucher disease
E Erythroblastosis fetalis
A 2-year-old male child is not gaining weight normally. His mother notes that the child's abdomen seems to have gotten larger during the past 4 months. An abdominal CT scan reveals a 6 cm mass in the retroperitoneum in the region of the right adrenal gland. Laboratory studies show increased levels of vanillylmandelic acid (VMA) and homovanillic acid (HVA) in the child's urine. Resection of the mass is performed, but it is stage 3 and cannot be completely excised. Histologically, the mass is composed of small round cells with prominent blue nuclei and little cytoplasm, and there is focal calcification and necrosis. Molecular analysis of tumor cells reveals no n-myc amplification. Which of the following factors suggests a better prognosis?
A Location of the tumor in the adrenal gland
B Age at diagnosis
C Absence of n-myc amplification
D Stage of 3
E Calcification in the neoplasm
A 28-year-old G3 P2 woman has a normal vaginal delivery of a 38 week gestational age male infant. However, following delivery of the baby and clamping of the umbilical cord, the placenta cannot be delivered, and there is extensive, life-threatening maternal hemorrhage. A hysterectomy must be performed, and the mother receives transfusion of multiple blood products. Which of the following conditions is she most likely to have?
A Abruptio placenta
B Placenta accreta
C Chorioamnionitis
D Twin placenta
E Complete mole
A 26-year-old G4 P3 woman's previous pregnancies resulted in 3 healthy term infants, all by normal vaginal delivery. An ultrasound performed at 18 weeks in her current pregnancy reveals no abnormal findings. However, the appearance of which of the following findings later in pregnancy would most likely suggest the need for delivery by cesarean section?
A Ultrasound showing oligohydramnios
B Positive serology for human immunodeficiency virus
C Maternal blood pressure of 180/110 mm Hg
D Premature rupture of membranes at 32 weeks gestation
E Herpes simplex virus inclusions seen on Pap smear
A 43-year-old G2 P1 woman is at 18 weeks gestation. On physical examination she has no remarkable findings and uterine size is appropriate for dates. A "triple screen" with testing maternal blood for alphafetoprotein (AFP), human chorionic gonadotropin (hCG), and estriol (e3) is performed. The values obtained for the AFP are low and for the hCG are higher than expected for gestational age. These findings suggest an increased risk for a fetus with which of the following conditions?
A A neural tube defect
B Erythroblastosis fetalis
C Down syndrome
D Neuroblastoma
E Cystic fibrosis
A 39-year-old G3 P2 woman gives birth at 36 weeks gestation to twins. It is noted that one twin girl is larger, weighing 25% more, and is plethoric compared to the other twin girl. Which of the following placental abnormalities is most likely to be present?
A Infarction of 15% of the placental volume
B True knot of one twin's umbilical cord
C Vascular anastomosis between fetal blood supplies
D Abruption of 10% at one margin
E Chronic villitis
A 29-year-old woman had an ultrasound at 18 weeks gestation that was completely normal. She is at the 37th week of an uncomplicated pregnancy when she has the sudden onset of pelvic pain accompanied by passage of blood per vagina. Her membranes had not ruptured nor was she having labor contractions prior to the onset of the pain. Fetal monitoring reveals that the baby is in distress. Which of the following is the most likely diagnosis?
A Tubal ectopic pregnancy
B Placenta previa
C Placenta accreta
D Molar pregnancy
E Abruptio placenta
A 31-year-old G4 P3 woman gives birth at 32 weeks gestation. The 2800 gm infant boy is initially stable after administration of artificial surfactant. However, at three days of age, this neonate is noted to have increasing abdominal distension, with bloody stools. Which of the following is the most likely diagnosis?
A Necrotizing enterocolitis
B Congenital parvovirus infection
E Birth injury
An 18-year-old G2 P1 woman experiences preterm premature rupture of membranes at 30 weeks gestation. A week later she gives birth to a baby girl with weight normal for gestational age. No congenital anomalies are noted. The baby has initial Apgar scores of 6 at one minute and 7 at five minutes, but then begins to have respiratory distress 40 minutes later, with grunting and retractions. The normal-sized placenta is examined microscopically and the fetal membranes are heavily infiltrated with neutrophils. Which of the following maternal infections is most likely to cause these findings?
A Group B Streptococcus
B Cytomegalovirus
C Treponema pallidum
D Candida albicans
E Mycobacterium avium complex
Crown Prince Alexei has an inherited disorder resulting in joint and soft tissue hemorrhages that severely limit his range of motion. His parents and none of his sisters are affected. The original mutation probably arose in the English Queen Victoria a couple of generations earlier and passed along via marriage of offspring to the Romanovs in Russia. Queen Victoria herself was not affected. Which of the following modes of inheritance is most likely to be present in this history?
A Autosomal dominant condition
B Aneuploid condition
C Autosomal recessive condition
D X-linked condition
E Dominant negative condition
A 21-year-old G3 P2 woman had two previous pregnancies which resulted in normal term infants. She has noted no fetal movement by 17 weeks gestation. An ultrasound scan reveals markedly decreased amniotic fluid, and there is poor visualization of the fetus. However, the fetus overall appears to be appropriate in size for gestational age. There is no family history of genetic diseases. Which of the following conditions is most likely responsible for these findings?
A Trisomy 16
B Congenital rubella infection
C Esophageal atresia
D Partial molar pregnancy
E Multicystic renal dysplasia
A 3-year-old boy is noted by his mother to have abdominal enlargement. On physical examination this child has a palpable abdominal mass. There is no lymphadenopathy. His blood pressure is 140/90 mm Hg. The left side of his body appears larger than the right. An abdominal CT scan shows a 6 cm solid, circumscribed, spherical mass involving the right kidney. No other organs are involved by masses, but it is noted that the liver and spleen are enlarged. Which of the following syndromes is most likely to explain this child's findings?
A Beckwith-Wiedemann syndrome
B Down syndrome
C Marfan syndrome
D Paraneoplastic syndrome
E Patau syndrome
A 23-year-old primigravida gives birth at 32 weeks gestation to a baby boy. The pregnancy was uncomplicated until preterm labor occured. The neonate has initial Apgar scores of 5 and 6 at 1 and 5 minutes, but within an hour the baby is in severe respiratory distress and dies despite resuscitative measures. The microscopic appearance of the baby's lungs at autopsy reveals extensive pink hyaline membranes lining alveoli, and alveoli are poorly expanded, with areas of atelectasis. Which of the following conditions is most likely to increase the risk for these findings?
A Erythroblastosis fetalis
B Gaucher disease
C Congenital toxoplasmosis
D Gestational diabetes
E Oligohydramnios
A 21-year-old G2 P1 woman gives birth at 36 weeks gestation. The infant girl weighs 4120 gm. Soon after birth, the baby exhibits irritability and then seizure activity. The baby's serum electrolytes show sodium 145 mmol/L, potassium 4 mmol/L, chloride 105 mmol/L, CO2 26 mmol/L, and glucose 20 mg/dL. Which of the following maternal laboratory test findings is most likely to be present?
A Serum amylase of 560 U/L
B Serum glucose of 210 mg/dL
C WBC count of 21,000/microliter
D Serum cholesterol of 620 mg/dL
E D-dimer of 10 microgm/mL
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