The Division of Maternal-Fetal Medicine, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, New York, USA.
J Clin Ultrasound. 2021 Jul;49(6):622-624. doi: 10.1002/jcu.23007. Epub 2021 Mar 28.
Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis-like musculoskeletal anomalies (club-feet, congenital hip dislocation, and camptodactyly of fingers and toes), facial dysmorphology, and at times congenital cardiac disease. Most of the described affected individuals have microduplications involving the CREBBP gene. Findings indicate this gene to be dosage-sensitive and likely involved in the phenotypes of 16p13.3 microduplication syndrome. We describe the incidental finding of 16p13.3 microduplication in a fetus with mid-trimester sonographic examination showing absent nasal bone and transient unilateral hydronephrosis.
16p13.3 微重复的特征表型特征包括精神发育障碍、类似关节挛缩症的肌肉骨骼异常（足内翻、先天性髋关节脱位和手足弯曲）、面部畸形，有时还伴有先天性心脏病。大多数描述的受影响个体都存在涉及 CREBBP 基因的微重复。研究结果表明，该基因对剂量敏感，可能与 16p13.3 微重复综合征的表型有关。我们描述了一例胎儿的 16p13.3 微重复的偶然发现，该胎儿在中期超声检查中显示无鼻骨和一过性单侧肾积水。
