Figure 1.

Clinical Findings in Patients with Chromosome 17q23.1q23.2 Microduplications

(A) Chromosome 17q21.1q23.2 region showing 2.2 Mb duplication at chromosome 17: 55457520–57693617 (hg18 build of the UCSC genome browser) with increased log₂ ratio and copy-number state in two patients (5103-01 and 5377-01) involving 1119 and 1120 markers. Seventeen RefSeq genes are located within the interval, including TBX2 and TBX4. Paired segmental duplications flank the duplicated region (shown in orange).

(B and C) Untreated bilateral clubfoot: patient 5103-01 in (B) and patient 5377-01 in (C).

(D) Limb hypoplasia in proband with bilateral clubfoot (5103-01) and hypoplasia of the right leg in his affected father with unilateral right-sided clubfoot (5103-03). Both had been treated surgically after failing conservative therapy.

(E) Broad, short, overlapping toes with nail hypoplasia in proband (5103-01).