National Institute of Immunohaematology (ICMR), 13th floor, new multistoried building, K.E.M Hospital campus, Parel, Mumbai-400012, India.
Gene. 2012 Apr 25;498(1):128-30. doi: 10.1016/j.gene.2012.01.066. Epub 2012 Feb 9.
Small supernumerary marker chromosomes (sSMCs) are a heterogeneous group with regards to their clinical effects as well as their chromosomal origin and their shape. The sSMCs are associated with mental retardation and dysmorphic features. Multiple sSMCs are rarely reported. We report four sSMCs in a case of dysmorphic features and intellectual disabilities. Among the four sSMCs, one sSMC confirmed to be chromosome 5 derived sSMC using fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY). The sSMCs were de novo originated as parental chromosomal analysis revealed normal karyotypes. The sSMC derived from chromosome 5 might be associated with mental retardation and dysmorphic features in the present case. However the remaining three sSMCs might have originated from repetitive sequences of chromosomes.
小型额外标记染色体（sSMC）在临床效应、染色体来源和形态上具有异质性。sSMC 与智力迟钝和发育异常有关。多发性 sSMC 很少见有报道。我们报告了一例具有发育异常和智力障碍特征的病例中的四个 sSMC。在这四个 sSMC 中，一个 sSMC 通过荧光原位杂交（FISH）和光谱核型分析（SKY）证实为来源于染色体 5 的 sSMC。sSMC 是新生的，因为父母染色体分析显示正常核型。来自染色体 5 的 sSMC 可能与本病例中的智力迟钝和发育异常有关。然而，其余三个 sSMC 可能来自染色体的重复序列。
