A 27-year-old G1P0 at 12 weeks gestation presents to her obstetrician for her first prenatal visit. She and her husband both have achondroplasia, and she is curious what are the chances that they will have a child of average height. What percent of pregnancies between two individuals with achondroplasia that result in a live birth will be expected to be offspring that are unaffected by this condition?
A0%
B50%
C75%
D33%
E25%
A 4-year-old boy is brought to the pediatrician by his mother for a routine medical examination. His medical history is relevant for delayed gross motor milestones. The mother is concerned about a growth delay because both of his brothers were twice his size at this age. Physical examination reveals a well-groomed and healthy boy with a prominent forehead and short stature, in addition to shortened upper and lower extremities with a normal vertebral column. The patient’s vitals reveal: temperature 36.5°C (97.6°F); pulse 60/min; and respiratory rate 17/min and a normal intelligence quotient (IQ). A mutation in which of the following genes is the most likely cause underlying the patient’s condition?
ARunt-related transcription factor 2
BAlpha-1 type I collagen
CFibroblast growth factor receptor 3
DInsulin-like growth factor 1 receptor
EFibrillin-1
An 11-year-old girl presents to her primary care physician because she has been having difficulty hearing her teachers at school. She says that the difficulty hearing started about a year ago, and it has slowly been getting worse. Her past medical history is significant for multiple fractures in both her upper and lower extremities. She also recently had a growth spurt and says that her friends say she is tall and lanky. A mutation in which of the following genes is most likely associated with this patient's condition?
AType 4 collagen
BType 3 collagen
CFibrillin
DType 1 collagen
EFibroblast growth factor receptor
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