••• Chapter 21^ Genetics for the Obstetrician^221
❍ Chromosome analysis on your patient shows the following. What would be this patient’s clinical picture?
This patient has Turner syndrome. Features can include short stature, webbed neck, renal anomalies (eg, horseshoe
kidney), cardiac anomalies (eg, coarctation of aorta), Mullerian abnormalities, and difficulty with visual-perceptual
skills (overall intelligence is average or above).❍ What genetic tests would you offer a patient for recurrent pregnancy loss?
Factor V Leiden, prothrombin, antithrombin III, protein S, protein C, and parental chromosomes (on patient and
partner). MTHFR and homocysteine levels are no longer recommended due to the lack of association with adverse
pregnancy outcomes.
❍ On ultrasound a fetus has bilateral postaxial polydactyly with no additional findings. Neither parent reports
a personal history of polydactyly, but the husband says that his father was born with an extra finger on each
hand. What inheritance pattern is exhibited by this family history?
Autosomal dominant inheritance with incomplete penetrance.