Figure 3.

Characterization of a family with an inherited ZFX variant

(A) Facial features and extremities of probands 6A–6C (see text and supplemental information for additional details).

(B) Three-generation pedigree of probands 6A–6C and family members. Dark black circles and squares indicate affected individuals; gray circles indicate carrier females diagnosed with hyperparathyroidism (except for III-1). A is the wild-type ZFX allele; G is the variant ZFX allele at same position (GRCh38 chrX: 24229396A>G, c.(2438A>G), p.Tyr774Cys).

(C) Results of X-inactivation studies showing skewing in all carrier females and random inactivation in a noncarrier female (II-5).