Lee Mi Na, Lee Jiwon, Yu Hee Joon, Lee Jeehun, Kim Sun Hee
Green Cross Laboratories, Yongin, Korea.
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Lab Med. 2017 Jan;37(1):66-70. doi: 10.3343/alm.2017.37.1.66.
Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2. FISH analysis showed trisomy or tetrasomy 12p. Patient 3, who had clinical features comparable to those of patients 1 and 2, was diagnosed by using FISH analysis alone. Here, we report three patients with mosaic tetrasomy 12p. There have been only reported cases diagnosed by chromosome analysis and FISH analysis on skin fibroblast or amniotic fluid. To our knowledge, patient 1 was the first case diagnosed by using array CGH performed on peripheral lymphocytes in Korea.
帕利斯特-基利安综合征（PKS）是一种罕见的多系统疾病，其特征为12号染色体短臂等臂染色体和组织局限性嵌合性12号染色体短臂四体。在本研究中，我们对3例疑似患有PKS的儿科患者进行了基于微阵列比较基因组杂交（array CGH）和荧光原位杂交（FISH）分析，检测外周血淋巴细胞。患者1和患者2表现出颅面部畸形特征、肌张力减退和发育迟缓。Array CGH显示患者1有两到三个12号染色体短臂拷贝，患者2有三个拷贝。FISH分析显示12号染色体短臂三体或四体。患者3具有与患者1和患者2相似的临床特征，仅通过FISH分析确诊。在此，我们报告3例12号染色体短臂嵌合性四体患者。此前仅有通过染色体分析以及对皮肤成纤维细胞或羊水进行FISH分析确诊的病例报道。据我们所知，患者1是韩国首例通过对外周血淋巴细胞进行array CGH确诊的病例。
