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. Author manuscript; available in PMC: 2020 Oct 30.
Published in final edited form as: Genet Med. 2018 Jun 15;21(1):233–242. doi: 10.1038/s41436-018-0013-9

Fig. 1. Clinical features and/or molecular characterization of Patients 1-4.

Fig. 1

a Array-CGH results for patient 1 showing a hemizygous deletion involving exons 3–24 of KDM6A (arr[hg19] Xp11.3(44818602_44947539)×0). The reference sequence used for KDM6A is NM_021140.3. b Confirmation analysis of the deletion by duplex-PCR of exons 10 and 19 of KDM6A using a control amplicon in the MECP2 gene revealed the presence of a faint band corresponding to the KDM6A exons 10 and 19 in the patient’s DNA, suggesting the likely mosaic nature of the deletion. c Facial features of patient 1 at 9 months of age, showing long palpebral fissures, long eyelashes, and thin vermilion of the upper lip. d Array-CGH results for patient 2 providing evidence of a heterozygous deletion involving exons 7–17 of KDM6A (arr[hg19] Xp11.3(44892185_ 44935785)×1). e Patient 3 at 13 months old with the typical facial appearance and presence of persistent fingertip pads. f Patient 4 at 14 months old with the typical facial appearance of KS