PMC2815272_01
A patient with the facial dysmorphisms typical of RTS
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Pertinent physical characteristics were highly arched eyebrows, downward-slanted palpebral fissures, a beaked nose, nasal septum below alae, a highly arched palate and posteriorly angled ears (Figure 1).
Broad and radially deviated thumbs
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She also had broad, radially deviated thumbs and broad halluces (Figure 2).
GTG banding karyotype
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The patient's karyotype showed a balanced reciprocal translocation between chromosomes 2 and 16 without visible deletion; the full karyotype is 46, XX, t(2;16) (q36.3; p13.3) (Figure 3).