Conte R A, Sayegh S E, Verma R S
Division of Genetics, Long Island College Hospital Suny Health Science Center, Brooklyn, NY 11201.
Ann Genet. 1992;35(3):164-5.
The role of so called balanced translocations in human morphogenesis remains puzzling. An eleven month old hispanic female was referred for neurological evaluation. The major dysmorphic features include: epicanthal folds, flat nasal bridge, small mouth, micrognathia, low set ears and cleft-palate. The cytogenetic findings by multiple banding techniques revealed an apparent balanced translocation involving chromosomes 9p and 11p i.e. 46,XX,t(9;11)(p21.2;p14.2) which, according to the authors, has not been previously reported.
所谓平衡易位在人类形态发生中的作用仍然令人费解。一名11个月大的西班牙裔女性因神经学评估前来就诊。主要的畸形特征包括：内眦赘皮、鼻梁扁平、小嘴、小颌、低位耳和腭裂。通过多种显带技术进行的细胞遗传学检查发现了一种明显的涉及9号染色体短臂和11号染色体短臂的平衡易位，即46,XX,t(9;11)(p21.2;p14.2)，据作者称，此前尚未有过相关报道。
