Pal S, Siti M I, Ankathil R, Zilfalil B A
Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian 16150, Malaysia.
Singapore Med J. 2007 May;48(5):e146-50.
Patients with isochromosome 18q, a rare cytogenetic abnormality, also reported as Edwards syndrome, is the second most common autosomal trisomy. However, the phenotypic features and survival of these patients are not uniform and depend upon the portion of chromosomes getting duplicated or deleted. The survival of these children may be longer, hence a good cytogenetic diagnosis is a must. Morphological characteristics of isochromosome 18q are not yet fully delineated because of the rarity of the cases and as most cases are aborted medically or terminate spontaneously. We report two cases of isochromosome 18q, one male aged two years old and the other a male aged eight months old, and review the literature on this rare syndrome.
18号染色体等臂染色体患者，这是一种罕见的细胞遗传学异常，也被报道为爱德华兹综合征，是第二常见的常染色体三体。然而，这些患者的表型特征和存活情况并不一致，取决于染色体重复或缺失的部分。这些儿童的存活时间可能更长，因此良好的细胞遗传学诊断是必不可少的。由于病例罕见，且大多数病例在医学上流产或自然终止，18号染色体等臂染色体的形态特征尚未完全明确。我们报告了两例18号染色体等臂染色体病例，一例为两岁男性，另一例为八个月大的男性，并回顾了关于这种罕见综合征的文献。
