14号染色体长臂远端三体。I. 临床与细胞遗传学研究。
Distal trisomy 14q. I. Clinical and cytogenetical studies.
作者信息
Gilgenkrantz S, Vigneron J, Peter M O, Dufier J L, Teboul M, Chery M, Keyeux G, Lefranc M P
机构信息
Laboratoire de Génétique, Centre Régional de Transfusion Sanguine et d'Hématologie, Vandoeuvre-les-Nancy, France.
出版信息
Hum Genet. 1990 Oct;85(6):612-6. doi: 10.1007/BF00193584.
Two cases of de novo duplication of the distal part of the long arm of chromosome 14 are reported. In one case, the partial trisomy of 14q is due to translocation of a segment (14q24 to 14qter) at the end of the satellite stalk of chromosome 14. The clinical picture is very severe. In the second case, a tandem duplication in 14 (q23----q32) is present with only minor malformations and mild mental retardation.
报道了两例14号染色体长臂远端从头重复的病例。其中一例，14q部分三体是由于14号染色体随体柄末端的一个片段（14q24至14qter）易位所致。临床表现非常严重。在第二例中，存在14号染色体（q23----q32）的串联重复，仅有轻微畸形和轻度智力发育迟缓。
Zotero 插件