Fig. 1 | Scientific Reports

Fig. 1

From: Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome

Fig. 1The alternative text for this image may have been generated using AI.

Clinical presentation, Face2Gene evaluation, and sequencing results of the patient’s blood and buccal swab DNA. (a) Facial features, palmar and dorsal views of the left hand of the affected patient. (b) Facial heatmap from the Face2Gene application of a patient’s facial photograph at the age of 41 years. (c) Sanger chromatogram and Integrative Genomics Viewer (IGV) view of sequencing results of the targeted SMC1A variant NM_006306.3:c.2369 = /G > A; p.(Arg790Gln) in the patient’s blood (top) and buccal swab (bottom) derived DNA.

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