Tapered Fingers in a Brother-Sister Pair Provided a Clue to an X-linked Recessive Inherited Mutation
The male of this pair of siblings had severe developmental anomalies – the sister revealed similar but milder impacts – the parents were “not affected” – however, the mother of this pair is an obligatory carrier of the mutation on one of her X-chromosomes which was inherited by her son and daughter. In other words, I believe that a more detailed examination of the mother will show anomalies.
This is a demonstration of a power of applying Mendelian genetics principles to clinical practice.
W. Wertelecki, M.D., 2018-04-18