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When should patient's with Turner's syndrome be transitioned to an adult primary care doctor and adult specialists?

during adolescence


Neonatal diagnosis of Turner's Syndrome is most often accompanied by anomalies in which organ?



A baby is born with prominent auricles, blue sclerae, and broad, widely spaced nipples. In utero, the baby had cystic hygromas and today you notice residual webbing of the neck. Which of the following is the most likely genetic finding in this patient?

a single X chromosome


Which of the following is included as standard treatment for Gaucher's disease?

enzyme replacement


What is the most significant disadvantage to utilizing non-viral genetic therapies during the treatment of genetic disease?

expression of gene therapy is very transient


Individuals with Acute Intermittent Porphyria should particularly avoid:



Individuals with a G6PD deficiency should particularly avoid:

anti-malarial drugs


A patient presents with neurologic abnormalities and progressive renal failure. As a child, the patient recalls experiencing pain crises accompanied by an inability to sweat and periodic episodes of heat stroke. Workup of the patient reveals an accumulation of glycosphingolipids in the skin biopsy. Which of the following is the most appropriate treatment for this patient?

enzyme replacemen


Which of the following would NOT be of concern in a patient with Beta-thalassemia major?

HbA2 production


In a 4 year old patient, which of the following should comprise over 95% of hemoglobin content in the blood?



Genetic evaluation of patient reveals one normal Beta-globin gene and one mutated Beta-globin gene. Which of the following is the MOST likely finding upon evaluation of your patient?

Low MCV (small RBCs)


Cooley's anemia can be detected by the absence of which of the following?



Which of the following is the correct pair of normal genetic variation steps that occur in meiosis?

disjunction during anaphase, recombination during prophase


What type of inversion in this? 46, XX inv(9)(p13q13)

balanced pericentric


What percentage of offspring from an individual whose genotype is i21 will be abnormal?



Genotype for male with fragile X

46, Y fra(X)(q27.3)


What is indicated by a genotype of 46, X i(Xq)?

a female with isochromosome for the long arm of


Two cells derived from two different male patients are cultured in lab and stimulated to undergo meiosis. The first cell, undergoes an error during meiosis 1, the second undergoes an error during meiosis 2. If these cells were used to fertilize genotypically normal female eggs in-vitro, what will be the possible genotypes and phenotypes of their offspring?

Cell 1: 47, XXY infertile, Cell 2: 47, XYY fertile


In the ‘two-hit’ model of maternal age effect what are considered to be the first and second hits?

diminished recombination cause by a lack of chiasmata or mislocated chiasmata, faulty segregation of chromosomes by oocytes


During adjacent 1 segregation, which of the following correctly describes the fate of homologous centromeres?

they will go to different daughter cells


You are working with genetic material in the lab, and examining cell lines from an unknown genetic origin. Upon analysis of your data you notice that chromosome 3 is duplicated in 100% of your viable cells causing them all to have unbalanced karyotypes. You also notice that you have exactly 50% of the predicted number of daughter cells based on your calculations. Which of the following is the mechanism by which this defect must have occurred in all of your cells?

alternative segregation


A normal healthy parent has a baby with the genotype 47XXY i(Xq). What is the likelihood that a second child will also have an abnormal genotype?



You do a FISH study on a child who presents with severe developmental delays and seizures. He is otherwise phenotypically normal, with normal facial features and no obvious anatomic defects. What is the most likely finding?

IDIC 15 (supernumary marker chromosome)


Besides PWS and Angelman's, 15q deletions have been associated with with disorder?



Which is the most common mechanism resulting in Angelman's syndrome?

maternal deletion of 15q11q13


What effect will supplemental growth hormone have on a child with Prader-Willi Syndrome?

increase height, alleviate excessive eating


Sleep apnea is a contraindication to the use of growth hormone in PWS patients. For this reason, treatment with growth hormone should begin:

at onset of excessive eating symptoms onset


An interstitial 15q duplication is found in a FISH study. Without knowing the patient's symptoms, what can you conclude based on the fact that the methylation tests show the duplication to be paternally derived?

patient will be phenotypically normal


A 4-year-old boy comes to your clinic for an obesity evaluation. He was born at term but his mom noticed minimal movements during pregnancy. He was very floppy when he was born, had undescended testicles and mildly unusual facial features. He had difficulty feeding as an infant but now eats anything and everything in sight without satiety. What do you suspect is his genotype?

15q11-q13 paternal deletion (detected by FISH), normal karyotype


You prescribe felodipine to a hypertensive patient. A few weeks later, the patient develops a sinus infection and drinks a glass of grapefruit juice each morning with the medication you prescribed. What is the most likely outcome regarding the drug's action?

inhibition of CYP3A metabolism making the patient hypotensive