Yu Dongmei, Sun Lingyu, Chen Taotao
Department of Special Examinations, Qingdao Women and Chlidren's Hospital, Qingdao, China.
J Clin Ultrasound. 2021 Mar;49(3):254-256. doi: 10.1002/jcu.22896. Epub 2020 Jul 30.
We describe a case of prenatal diagnosed Klippel-Trenaunay-Weber syndrome, which mainly manifested as hypertrophy of the left thigh, and was associated with umbilical cord hemangioma and loss of heterozygosity (LOH) for 1q21.2 q44. This case report describes the second reported case associated with umbilical cord hemangioma and the first reported case with LOH for 1q21.2 q44.
我们描述了一例产前诊断的克-特-韦综合征病例，主要表现为左大腿肥大，并伴有脐部血管瘤以及1q21.2至q44区域的杂合性缺失（LOH）。本病例报告描述了第二例与脐部血管瘤相关的病例以及首例1q21.2至q44区域存在杂合性缺失的病例。
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