Sutherland G R, Carter R F, Morris L L
Hum Genet. 1976 May 19;32(2):133-40. doi: 10.1007/BF00291495.
Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9) (p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of the cardiovascular and urogenital systems, cranial suture anomalies, dislocation of the hips and knees and early death. A possible relationship of some of these findings to regions of 9q involved in cases of partial trisomy 9 is suggested.
本文描述了两名患有9号染色体三体的婴儿。一名患有完整的9号染色体三体,另一名的核型为47,XX,+der(9),t(7;9) (p22;q32)mat。本文明确了一种9号染色体三体综合征,其特征包括9号染色体短臂三体综合征的特征以及各种其他畸形。这些畸形包括心血管和泌尿生殖系统异常、颅缝异常、髋关节和膝关节脱位以及早夭。文中还提出了其中一些发现与9号染色体部分三体病例中涉及的9号染色体长臂区域之间可能存在的关系。