Marçallo F A, Werneck L C, Pilotto R F, Opitz J M
Eur J Pediatr. 1977 Feb 21;124(3):167-71. doi: 10.1007/BF00452107.
A 10 year old girl with a mental age of 7-8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the left side being uniformly smaller than the right. The smaller side was considered the abnormal side and her condition interpreted as hemihypotrophy on the basis of a chromosome abnormality which involved mosaicism, with lymphocytes showing a balanced but very unequal translocation of most of 13q transferred to 7p and both translocation chromosomes being present, and all examined fibroblasts lacking the small translocation chromosome and hence being monosomic for 13p, proximal part of 13q and a terminal portion of 7p.
一名10岁女孩，心理年龄为7 - 8岁，身高和头围正常，有一些轻微异常，全身存在半侧不对称，左侧整体比右侧小。较小的一侧被视为异常侧，基于染色体异常（涉及嵌合体），她的病情被解释为半侧发育不全，淋巴细胞显示大部分13q平衡但非常不均等地易位到7p，且两条易位染色体均存在，而所有检查的成纤维细胞都缺乏小易位染色体，因此对于13p、13q近端部分和7p末端部分为单体型。
