Schwanitz G, Schmid R D, Grosse G, Grahn-Liebe E
J Genet Hum. 1977 Jun;25(2):141-50.
Two mentally retarded brothers with partial trisomy 3q show clinically similar malformations and deformities : dwarfism, bushy eyebrows, eversion of the nostrils, low inserted ears, high palate, microgeny, low hair insertion, short and broad hands with proximally inserted thumbs, clinodactylia of the 5th finger, syndactylies, mostly arch patterns on the digital pulps, muscular hypotonia, joint relaxation and cryptorchism. Both children had fits of convulsions. The younger boy showed, moreover, a perception deafness. The mother, the maternal grand-mother as well as the phenotypically normal sister of the patients revealed a balanced translocation 3/22 with a karyotype : 46,XX,t(3;22) (q25;p11).
两名患有3q部分三体综合征的智力发育迟缓兄弟表现出临床上相似的畸形和异常：侏儒症、浓眉、鼻孔外翻、低位耳、高腭弓、小下颌、低发际、手短而宽且拇指近位插入、第5指屈曲指、并指畸形、指腹大多为弓形纹、肌张力减退、关节松弛和隐睾症。两个孩子都有惊厥发作。此外，年幼的男孩还表现出感知性耳聋。母亲、外祖母以及患者表型正常的姐姐均显示出3号与22号染色体的平衡易位，核型为：46,XX,t(3;22)(q25;p11)。
