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이기욱 ( Gi-wook Lee ),김연아 ( Yeona Kim ),원상현 ( Sang-hyeon Won ),배경남 ( Kyung-nam Bae ),이정수 ( Jungsoo Lee ),신기혁 ( Kihyuk Shin ),김훈수 ( Hoon-soo Kim ),김병수 ( Byung-soo Kim ),김문범 ( Moon-bum Kim ),고현창 ( Hyun-ch 대한피부과학회 2023 대한피부과학회지 Vol.61 No.4
The phenotypic variability of variant Turner syndrome is wide, ranging from characteristic clinical features to those that are hardly distinguishable from the general population. A 4-year-old girl presented with multiple brownish macules and patches on the trunk and upper extremities as well as axillary freckles. Exome sequencing and chromosomal microarray testing revealed a microdeletion at Xp22.33p22.11 leading to a diagnosis of Turner syndrome. Here we describe an unusual case of variant Turner syndrome with multiple café-au-lait spots. (Korean J Dermatol 2023;61(4):244∼247)