Delgado A, Molina M, Egues J, Oyarzabal M, Muñoz Y M
An Esp Pediatr. 1985 Jan;22(1):48-54.
Two cases of trisomy 9p are presented. The different cytogenetic mechanism given in these cases shows us that with independence of it, it exists a triplication of the half distal short arm of chromosome 9 which gives specificity to these phenotypic features. It might be a possible meiotic origin of the chromosomic rearrangement on both translocations, the formation of satellited chromosomes and isochromosomes of the short arm on chromosome 9 and the consequently wrong segregation of each one of them. The non-existence of chromosomic material with activity in the transcription, confers to both situations the category of a pure trisomy 9p. The prenatal diagnosis through amniocentesis might be useful, even in the so called "de novo" cases, in order to avoid the repetition of this kind of structural aberration or some others that could appear due to fragility of certain chromosomic regions.
本文报告了2例9号染色体短臂三体病例。这些病例中不同的细胞遗传学机制表明，与之无关的是，9号染色体远端短臂的一半发生了三倍体化，这赋予了这些表型特征特异性。这可能是两种易位中染色体重排的一种可能的减数分裂起源、9号染色体短臂卫星染色体和等臂染色体的形成，以及随之而来的它们各自的错误分离。不存在具有转录活性的染色体物质，这使得这两种情况都属于纯9号染色体短臂三体的范畴。即使在所谓的“新发”病例中，通过羊膜穿刺术进行产前诊断也可能有用，以避免这种结构畸变或由于某些染色体区域的脆弱性而可能出现的其他畸变的重复。
