Ramadevi A Radha, Prabhakara K, Dutta Usha
Diagnostics Division, Center for DNA Fingerprinting & Diagnostics, ECIL Road, Nacharam, Hyderabad 500 076, India.
Ann Genet. 2002 Jan-Mar;45(1):13-5. doi: 10.1016/s0003-3995(02)01099-7.
The role of balanced translocations in the human morphogenesis is difficult to interpret. A balanced reciprocal translocation (BRT) was observed in a female child referred with a history of regression of milestones. The cytogenetic findings by GTG-banding and fluorescence in situ hybridization revealed a BRT involving chromosomes 11p and 21q, i.e. 46,XX, t(11;21)(p13;q22). The father was found to be a carrier of the same BRT. This is the first report of reciprocal translocation involving 11p and 21q. The possible reasons for the manifestation of clinical features in the proband due to inherited BRT are discussed.
平衡易位在人类形态发生中的作用难以解释。在一名有发育里程碑倒退病史的女童中观察到了一种平衡相互易位（BRT）。通过GTG显带和荧光原位杂交的细胞遗传学结果显示，一种涉及11号染色体短臂和21号染色体长臂的BRT，即46,XX, t(11;21)(p13;q22)。发现父亲是相同BRT的携带者。这是涉及11p和21q的相互易位的首例报告。讨论了先证者因遗传BRT而出现临床特征的可能原因。
