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. Author manuscript; available in PMC: 2012 Oct 22.
Published in final edited form as: Mol Cell Endocrinol. 2011 Jun 1;346(1-2):102–109. doi: 10.1016/j.mce.2011.05.041

Figure 2.

Figure 2

A family with IGD + anosmia (Kallmann syndrome) demonstrating x-linked recessive inheritance and phenotypic features typical of KAL1. The proband, indicated by the arrow, has synkinesia in addition to his anosmic IGD, and carries a R191X mutation on the KAL1 gene on his X chromosome and a normal Y chromosome. His maternal uncle carries the same KAL1 mutation and has Kallmann syndrome with renal agenesis, and his maternal great-uncle with the mutation also has Kallmann syndrome. Typical of an x-linked recessive pedigree, no male-to-male transmission is seen and female carriers are asymptomatic.