Basics of human genetics

You are drawing a three-generation pedigree for a 7-year-old girl referred with recurrent headaches. Her mother mentions that the child's father, from whom she…

Pre-internship · middle twist

A 9-year-old boy has two years of worsening exercise intolerance, drooping eyelids and newly fitted hearing aids. You take a family history to draw a pedigree.…

Clinical rotations · middle twist

A 3-week-old boy has just had a pyloromyotomy for infantile hypertrophic pyloric stenosis. He is his parents' first child and neither parent nor any grandparent…

Clinical rotations · middle twist

A woman has an amniocentesis at 17 weeks after a cell-free DNA test reported a high chance of trisomy 21. She is booked to fly interstate in three days for a fa…

Pre-internship · middle twist

A couple in their early thirties have had three consecutive first-trimester miscarriages and have no living children. Both are well and neither has a family his…

Clinical rotations · middle twist

A couple attend at nine weeks of a planned pregnancy. Their first child has cystic fibrosis, and both parents are known carriers of the same CFTR variant. They…

Clinical rotations · common