Choi Asayeon, Oh Ja-Young, Kim Myungshin, Jang Woori, Jang Dae-Hyun
Department of Rehabilitation Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea.
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Ann Rehabil Med. 2017 Oct;41(5):881-886. doi: 10.5535/arm.2017.41.5.881. Epub 2017 Oct 31.
Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.
已有报道称存在7q36至末端重复或9p24缺失的患者，但同时携带这两种突变的患者尚未见报道。在此，我们报告一名同时发生新发7q36.1-q36.3重复和9p24.3缺失的患者。一名6岁男孩表现为语言发育迟缓、小头畸形和畸形特征，包括长脸和小鼻子。染色体和阵列比较基因组杂交分析显示为46,XY,dup(7)(q36.1-q36.3)和del(9)(p24.3)。重复和缺失的大小分别为9.9 Mb和1.9 Mb。7号染色体的重复包含68个已知基因，其中3个与发育障碍基因型-表型(DDG2P)数据库中的条目相关。9号染色体的缺失包含6个已知基因，其中2个在DDG2P数据库中。我们研究了该患者的基因型和表型，并查阅了相关文献以了解这些变异可能的临床表现。
