Mutations can't result in a change in appearance.
Based on the salient features and the laboratories of this patient, this is a case of Crohn's disease. Crohn's disease is type of chronic inflammatory bowel disease or IBD along with ulcerative colitis. Crohn's disease usually presents with diarrhea, abdominal pain, and significant weight loss. Pathologically, it is characterized by "skip-lesions" or discontinuous granulomatous that occurs on all layers of the bowel (transmural); with the involvement of the whole gastrointestinal tract. Patients with Crohn's disease have a significant risk in developing colorectal cancer.
In active transport, materials move from an area of high concentration to an area of lower concentration (goes down the concentration gradient) and it requires or uses energy in the form of ATP (adenosine triphosphate)
They have the genotype of Hh and Hh as of this the offspring will have a 25% and 75%. Since the offspring is 25% which is hh she ended up getting the hemophilia. But the Son got the 75% instead of the 25% which was born into non-disease. The dominant is H 75%.
In sort words
She some how got the offspring trait of the hemophilia disease
and the son got disease free on the 75% of not getting the disease
pretty much its chances of outcome
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