The pedigree illustrates a family with acute extrapyramidal…

The pedigree illustrates a family with acute extrapyramidal syndrome associated with mild OTC deficiency. Which of the following individuals are most likely to be obligate carriers (or heterozygotes) of the OTC pathogenic variant?    *Age at death is given for individuals III-3, III-4, III-12 and IV-6, and death in infancy (inf) is annotated for individuals II-3, III-15, III-16, IV-5. 

Several members of a family have reported suffering from dys…

Several members of a family have reported suffering from dyspnea, and chest pain or fainting during exercise.  Upon further questioning, many report feeling palpitations as well.  After an extensive family history interview, the pedigree illustrated in the figure was constructed. Which of the following family members is most likely to be a non-penetrant carrier and at risk of similar symptoms?   

A 2-year old boy presents to his pediatrician because his pa…

A 2-year old boy presents to his pediatrician because his parents are concerned that he is not developing as quickly as his older sister did.  The pediatrician performs a physical examination which reveals hirsutism, micrognathia, and intellectual disability. Review of the patient’s records reveals cardiac and renal abnormalities. The parents are both unaffected. Karyotypes were obtained and structural chromosome 3 variants were found in the father and the child.  No other chromosomal rearrangements were observed.  Chromosome 3  is shown in the figure, with the standard chromosome 3 ideogram on the left. Which of the following options best describes why the father is unaffected and the child has a significant phenotype?   

A Caucasian couple is concerned that their unborn baby will…

A Caucasian couple is concerned that their unborn baby will have cystic fibrosis (CF). They already have a 4-year-old daughter. A dot blot analysis is performed to genotype the family for the F508 deletion in the CFTR gene. Probes complementary to the region spanning the F508del and to the wild type (WT) sequence in that region (WT) are spotted onto a membrane.  The membrane was then separated into four strips and hybridized to amplified CFTR DNA obtained from each parent, their 4yo daughter (child) and the fetus.  The results are shown in the figure (black indicates a positive hybridization result). Which of the following can be concluded from the dot blot analysis?