Teyssier M, Charrin C, Corgiolu Theuil G, David L
Laboratoire Central d'Hématologie et de Cytogénétique, Hôpital Edouard-Herriot, Lyon, France.
Ann Genet. 1992;35(2):75-8.
A 46,XX,r(17) karyotype was observed in a 9-year-old infant with short stature, moderate mental retardation but without other physical abnormality. Eight cases with an r(17) have since been reported: 4 can be compared with our patient, one was detected by amniocentesis, and 3 have Miller-Dieker syndrome. Submicroscopic deletions in the subband p13.3 are probably the cause of Miller-Dieker syndrome. They are present in some cases of r(17) but, in others, this short arm region is entirely preserved.
在一名9岁身材矮小、中度智力发育迟缓但无其他身体异常的婴儿中观察到46,XX,r(17)核型。此后又报道了8例r(17)病例：其中4例可与我们的患者进行比较，1例通过羊膜穿刺术检测到，3例患有米勒-迪克尔综合征。17号染色体短臂p13.3亚带的亚显微缺失可能是米勒-迪克尔综合征的病因。它们在一些r(17)病例中存在，但在其他病例中，该短臂区域完全保留。
