Nefić Hilada
Odsjek za biologiju, Prirodno-matematicki fakultet Univerziteta U Sarajevu.
Med Arh. 2004;58(4):199-201.
Unbalanced changes of chromosomes with loss or extra genetic material often cause changing phenotype. The main characteristics unbalanced karyotype involves mental retardation and numbers of anomalies, especially if the change involves autosoms. In this paper child with retard development and de novo translocation between chromosome 1 and chromosome 16 was described. Cytogenetics survey was carried out to establishing possible cause in relation with retard development and it involved standard cytogenetics method and method of differential staining (G-banding) that enables identification of certain structural rearrangement of chromosomes. Chromosome aberration was translocation of part of p arm of chromosome 1 on p arm of chromosome 16, that is, it presents abnormal karyotype 46, XX, t(1;16)(p13;p13) that might be one of the cause of retard development of child.
染色体的不平衡变化，伴有遗传物质的丢失或增加，常常导致表型改变。不平衡核型的主要特征包括智力发育迟缓以及多种异常情况，尤其是当这种变化涉及常染色体时。本文描述了一名发育迟缓且存在1号染色体与16号染色体之间新生易位的儿童。进行了细胞遗传学调查，以确定与发育迟缓相关的可能原因，该调查采用了标准细胞遗传学方法和鉴别染色法（G显带），后者能够识别染色体的某些结构重排。染色体畸变是1号染色体短臂的一部分易位到16号染色体短臂上，也就是说，呈现出异常核型46, XX, t(1;16)(p13;p13)，这可能是该儿童发育迟缓的原因之一。
