Which of the following options best defines negative predictive value? A The proportion of individuals affected with a condition that are correctly identified B The proportion of individuals who are not affected with a condition that are correctly identified C The proportion of individuals who screen positive on a screening test that are truly affected D The proportion of individuals who screen negative on a screening test that are truly unaffected

A 5-year-old girl presented to a pediatric cardiologist because of heart murmurs. The patient was small for her age, and had an elfin facies with a bulge forehead.  She had unusually sophisticated diction, and was remarkably sociable and happy, although her spatial abilities were weak. Laboratory analysis revealed hypercalcemia.  Echocardiography (GE vivid S5) with probe 5 MHz revealed a mild supraaortic valve stenosis and mild supravalvar and peripheral pulmonary stenosis.  Which of the following genetic tests is most likely to reveal the pathogenic variant in this patient? A Trinucleotide repeat length analysis B Karyotyping C Fluorescence in situ hybridization D Targeted mutation detection E Gene panel sequencing   

A woman inherited a pathogenic variant of the BRCA2 gene from her mother.  The genetic counselor informed her that the lifetime penetrance of this disorder is close to 90%. Which of the following is the most likely molecular explanation for this statement? A The pathogenic BRCA2 allele is dominant to the functional BRCA2 allele, resulting in BRCA2 variant expression. B The functional BRCA2 allele is likely to eventually acquire a mutation, resulting in loss of heterozygosity. C The pathogenic BRCA2 allele will be amplified, resulting in a copy number variant. D Recombination is likely to occur between the two BRCA2 alleles, resulting in compound heterozygosity. E The pathogenic BRCA2 allele will be deleted, resulting in BRCA2 hemizygosity.

How many copies of each of the genes of the pseudoautosomal region are present in a normal human male? A 1 B 0 C 3 D 2 E 4  

A 46,XY individual is carrying an SRY negative Y chromosome.  Which of the following options describes the most likely genetic, gonadal, and phenotypic sex of the patient?   Genetic Sex Gonadal Sex Phenotypic Sex A Male Male Male B Male Male Female C Male Female Male D Male Female Female E Female Male Male F Female Male Female G Female Female Male H Female Female Female

You should always use all CAPS when trying to make a point.

This type of print can be made using any print process, but with the intention of creating a unique image rather than an edition.

The exocrine secretions of the pancreas drain through __________ duct(s).

Which of the following options best describes the red flags that are present in the scenario illustrated in the pedigree, suggesting that the disorder segregating in this family is genetic?    Multiple affected family members Disease in the absence of risk factors Disease in the less often affected sex Ethnicity A) Yes No Yes No B) No Yes Yes Yes C) Yes Yes No Yes D) Yes Yes Yes No E) Yes No Yes Yes

Which of the following mutational mechanisms is the most likely cause of a 46,XX individual presenting as a normal male at birth, and small testes, gynecomastia, normal external male genitalia and normal male pubic hair distribution at puberty? A SRY translocation from Y to X B SOX3 duplication C Loss of function variant in NR5A1 D Gain of function variant in SOX9