Gagnon J A, Richer C L, Lemieux N, Gauthier-Chouinard M
Ann Genet. 1984;27(1):33-7.
A child with trisomy 1q24----qter is described. This syndrome is compared to other 1q partial trisomies. An association is proposed between these trisomic segments and the following phenotypic signs: microphtalmia, trigonocephaly, hypertrichosis, antimongoloid eye slants, anomalies of the biliary tract, and malformations of the central nervous system.
本文描述了一名患有1q24----qter三体综合征的儿童。将该综合征与其他1q部分三体综合征进行了比较。提出了这些三体片段与以下表型体征之间的关联:小眼症、三角头畸形、多毛症、反蒙古样眼斜、胆道异常和中枢神经系统畸形。