一名患有双卫星额外染色体（15号染色体倒位重复？）的儿童出现严重智力发育迟缓及轻微畸形
[Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?].
作者信息
Rinaldi M M, Militerni R, Pascotto A, Scarano G, Renda S, Cavaliere M L, Santulli B, Esposito M, Ventruto V
出版信息
Pediatr Med Chir. 1982 Sep-Oct;4(5):559-61.
PMID:6927358
Abstract
A de novo tetrasomy 15 has been reported, in a 6 years old child. The patient had severe mental retardation an minimal physical stigmata, consisting in slight skeletal and facial dismorphism. Cytogenetic analysis showed that extrachromosome, G-like long, was bisatellited and dicentric and was interpreted either as an inversion duplication 15 or as 15; G or D translocation.
摘要
据报道，一名6岁儿童出现了新生的15号染色体四体。该患者有严重智力发育迟缓，身体特征轻微，表现为轻微的骨骼和面部畸形。细胞遗传学分析显示，额外的染色体呈G样长形，有双随体且双着丝粒，被解释为15号染色体倒位重复或15；G或D易位。
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