Braga S, Schmidt A
Eur J Pediatr. 1982 Mar;138(2):195-7. doi: 10.1007/BF00441155.
An eight months old child with duplication 3p (p21 leads to 3pter) [karyotype: 46,XX,-6,+t(3;6)(6pter leads to 6q27::3p21 leads to 3pter)] resulting from a maternal balanced translocation (3;6) is described. The major clinical findings include congenital heart defects (several ventricular septal defects, atrial septal defect, patent ductus arteriosus, and double outlet right ventricle), and multiple dysmorphic features, such as brachycephaly, frontal bossing, square shaped face, hypertelorism, epicanthus, short prominent philtrum, and short neck. The motor development is retarded. The size of the duplicated segment of 3p is compared to 12 cases reported in the literature. Although the size of the duplicated segment differs in most of the patients, all show a similar pattern of developmental defects. It appears that the region 3p25 leads to 3pter is responsible for the phenotype of duplication 3p syndrome.
本文描述了一名8个月大的儿童，其3号染色体短臂（p21至3p末端）存在重复 [核型：46,XX,-6,+t(3;6)(6号染色体短臂末端至6q27::3号染色体短臂p21至3p末端)]，该重复由母亲的平衡易位（3;6）导致。主要临床发现包括先天性心脏缺陷（多个室间隔缺损、房间隔缺损、动脉导管未闭和右心室双出口）以及多种畸形特征，如短头畸形、额部突出、方形脸、眼距增宽、内眦赘皮、短而突出的人中以及短颈。运动发育迟缓。将3号染色体短臂重复片段的大小与文献报道的12例病例进行了比较。尽管大多数患者重复片段的大小不同，但所有患者均表现出相似的发育缺陷模式。似乎3号染色体短臂p25至3p末端区域与3号染色体短臂重复综合征的表型有关。
