You are seeing a 6 year old boy in your clinic. He has intel…

You are seeing a 6 year old boy in your clinic. He has intellectual disability and was also diagnosed with autism. He has a long narrow face and a prominent jaw. His mother tells you that he did not speak until he was 3.5 years old. You talk to his mother, and learn that she is currently experiencing menopause at age 35. She is on medication for anxiety. What is the child’s likely diagnosis?

Animal studies performed to assess the teratogenic risk of a…

Animal studies performed to assess the teratogenic risk of a newly developed drug often involve giving pregnant animals doses that are hundreds of times greater on a per kilogram basis than the doses that are used clinically. Which of the following principles provides the best rationale for this practice?

Two brothers are affected with neurofibromatosis type 1. The…

Two brothers are affected with neurofibromatosis type 1. They inherited a mutation in the NF1 gene from their mildly affected father. One brother has multiple cutaneous neurofibromas, intellectual disability and an optic glioma (brain tumor). The other brother has only cafe au lait spots and axillary freckling. The difference in phenotypes between the two brothers is an example of which of the following principles?

A woman has a son with Fragile X syndrome. Parental testing…

A woman has a son with Fragile X syndrome. Parental testing of the mother shows that she has one allele with a repeat of 90 (the risk of expansion to a full mutation is 80%). She is now pregnant with a girl. What is the chance that the daughter would have premature ovarian insufficiency (POI) as an adult (the chance of developing POI is 20% in women with FMR1-related premutations)?