Furbetta M, Rosi G, Biagioni M, Cossu P, Cao A
Humangenetik. 1975 Sep 20;30(3):259-63. doi: 10.1007/BF00279191.
A mentally retarded child with an extra small bisatellited acrocentric chromosome is described. The patient exhibited rather unspecific clinical signs such as strabismus, marked facial asymmetry, broad and prominent nasal bridge, hypertelorism, Brushfield's spots, malformed ears with atresia of the external auditory canal on the right side. Giemsa banding (R and G methods) did not allow a clear cytogenetic identification of the extra-chromosome. A tentative interpretation of the cytogenetic aberration as a trisomy of the proximal part of the long arm of chromosome 13 is discussed.
本文描述了一名患有一条额外的小双随体近端着丝粒染色体的智力发育迟缓儿童。该患者表现出一些不太特异的临床体征，如斜视、明显的面部不对称、宽阔且突出的鼻梁、眼距过宽、布氏斑、耳部畸形以及右侧外耳道闭锁。吉姆萨显带法（R和G法）无法对这条额外染色体进行明确的细胞遗传学鉴定。本文讨论了将这种细胞遗传学异常初步解释为13号染色体长臂近端三体的可能性。
