Centerwall W R, Thompson W P, Allen I E, Fobes C D
Am J Dis Child. 1975 Mar;129(3):366-70. doi: 10.1001/archpedi.1975.02120400066017.
The casee presented here may be the first fully identified and verified cas of translocation 4p-- syndrome, a B4/G22 translocation, ie, 45,XX,-4,-22,+t(4q 22q). Thirty-nine other cases of the 4p--syndrome, including one other possible translocation case, have been found in the medical literature. Conventional chromosome studies cannot distinguish between 4p-- (Wolf) syndrome and 5p-- (cri-du-chat) syndrome, and the clinical features, as in our case, may not be sufficiently characteristic to permit differentiation. The newer chromosome banding techniques have made specific identification possible.
这里呈现的病例可能是首例完全鉴定并确认的4p-综合征病例,一种B4/G22易位,即45,XX,-4,-22,+t(4q;22q)。医学文献中还发现了39例其他的4p-综合征病例,包括另一例可能的易位病例。传统的染色体研究无法区分4p-(沃尔夫)综合征和5p-(猫叫)综合征,而且就像我们这个病例一样,其临床特征可能没有足够的特异性来进行区分。更新的染色体显带技术使得特异性鉴定成为可能。