Scheibenreiter S, Frisch H
Wien Klin Wochenschr. 1978 Jan 6;90(1):22-5.
A report is given of the occurrence of a ring chromosome 15 in a 5.6 year-old girl. The features of this case are mental retardation, small stature, microcephaly, malformation of the kidney, congenital heart disease and congenital dislocation of the hips. The features of this syndrome are very variable. Only 4 cases have been described up to 1975.
报告了一名5.6岁女孩出现15号环状染色体的情况。该病例的特征为智力迟钝、身材矮小、小头畸形、肾脏畸形、先天性心脏病和先天性髋关节脱位。该综合征的特征变化很大。截至1975年,仅描述了4例。