Waziri M, Patil S R, Hanson J W, Bartley J A
J Pediatr. 1983 Jun;102(6):873-6. doi: 10.1016/s0022-3476(83)80014-6.
Two unrelated children with features of Beckwith-Wiedemann syndrome have been found to have partial duplication of chromosome 11p. A review of six other reported cases of partial duplication of 11 p revealed features of this syndrome not previously recognized. We suggest that karyotype studies with banding techniques should be done in children with features of Beckwith-Wiedemann syndrome and developmental delay or retardation.
已发现两名患有贝克威思-维德曼综合征特征的非亲缘关系儿童存在11号染色体短臂部分重复。对其他六例已报道的11号染色体短臂部分重复病例的回顾揭示了该综合征以前未被认识到的特征。我们建议，对于具有贝克威思-维德曼综合征特征以及发育迟缓或智力迟钝的儿童，应采用染色体显带技术进行核型研究。
