Atli Emine Ikbal, Gurkan Hakan, Atli Engin, Vatansever Ulfet, Acunas Betul, Mail Cisem
Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey.
Department of Pediatrics, Trakya University Faculty of Medicine, Edirne, Turkey.
J Pediatr Genet. 2020 Mar;9(1):32-39. doi: 10.1055/s-0039-1694703. Epub 2019 Aug 12.
Duplications of 6q and deletions of 6p have been reported in more than 30 cases of live born infants and given rise to widespread abnormalities recognizable as a specific clinical syndrome. Different phenotypes have been described with variable clinical signs. Most cases involve the coexistence of unbalanced translocations affecting one or the other of the chromosomes. However, duplication of both chromosome 6q and deletion of 6p regions have been reported in only a few cases. Here, we report the first duplication of chromosome band 6q23.3-q27 with deletion of 6p25.3. This is the first case in the literature involving changes to these specific chromosomal regions; a medium size duplication of the distal long arm and smaller deletion of the terminal short arm of chromosome 6. In the literature, there are no other cases where these two specific chromosomal aberrations are observed together. Conventional chromosome analysis was performed to investigate the patient. Chromosome structure was identified using fluorescence in situ hybridization for subtelomeric regions of chromosome 6 and array comparative genomic hybridization analysis (array-CGH).
据报道，超过30例活产婴儿存在6号染色体长臂重复和6号染色体短臂缺失的情况，并引发了可被识别为特定临床综合征的广泛异常。已描述了具有不同临床体征的不同表型。大多数病例涉及影响其中一条染色体的不平衡易位的共存。然而，仅在少数病例中报道了6号染色体长臂重复和6号染色体短臂缺失同时存在的情况。在此，我们报告首例6号染色体6q23.3-q27区域重复伴6p25.3缺失的病例。这是文献中首例涉及这些特定染色体区域变化的病例；6号染色体远端长臂中等大小的重复和末端短臂较小的缺失。在文献中，没有其他同时观察到这两种特定染色体畸变的病例。对该患者进行了常规染色体分析。使用针对6号染色体亚端粒区域的荧光原位杂交和阵列比较基因组杂交分析（array-CGH）来鉴定染色体结构。
