Al-Awadi S A, Teebi A S, Sundareshan T S
Ann Genet. 1985;28(3):181-4.
A five-year-old boy with speech delay, minor facial abnormalities and borderline psychomotor retardation was found to have a complex de novo double translocation involving four chromosomes resulting in monosomy for the segment 13q32----qter. Chromosomes involved were 11, 13, 14, and 18. The translocation between chromosome 11 and 13 was unbalanced with the loss of the segment 13q32----qter. The second translocation between 14 and 18 was apparently balanced.
一名患有语言发育迟缓、轻微面部异常和边缘性精神运动发育迟缓的五岁男孩,被发现存在涉及四条染色体的复杂新生双易位,导致13q32----qter片段单体性。涉及的染色体为11号、13号、14号和18号。11号和13号染色体之间的易位不平衡,13q32----qter片段缺失。14号和18号染色体之间的第二次易位显然是平衡的。