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.

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• Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
  Liliana Fernández-Hernández, María José Navarro-Cobos, Miguel Angel Alcántara-Ortigoza, Sandra Elena Ramos-Ángeles, Bertha Molina-Álvarez, Sinhué Díaz-Cuéllar, Bárbara Asch-Daich, Ariadna González-del Angel
  Molecular Cytogenetics.2019;[Epub]     CrossRef

Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provides not only sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to genetic diagnosis. Sequencing of genes with clinical relevance rather than whole exome sequencing might be more suitable for the diagnosis of known hereditary disease with genetic heterogeneity. Here, we present the clinical usefulness of CES for the diagnosis of hereditary spastic paraplegia (HSP). We report a case of patient who was strongly suspected of having HSP based on her clinical manifestations. HSP is one of the diseases with high genetic heterogeneity, the 72 different loci and 59 discovered genes identified so far. Therefore, traditional approach for diagnosis of HSP with genetic analysis is very challenging and time-consuming. CES with TruSight One Sequencing Panel, which enriches about 4,800 genes with clinical relevance, revealed compound heterozygous mutations in SPG11. One workflow and one procedure can provide the results of genetic analysis, and CES with enrichment of clinically relevant genes is a cost-effective and time-saving diagnostic tool for diseases with genetic heterogeneity, including HSP.

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• A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay
  Kyu-Sun Lee, Miri Choi, Dae-Woo Kwon, Doyoun Kim, Jong-Moon Choi, Ae-Kyeong Kim, Youngwook Ham, Sang-Bae Han, Sungchan Cho, Chong Kun Cheon
  Scientific Reports.2020;[Epub]     CrossRef
• Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report
  Sung Eun Hyun, Byung Se Choi, Ja-Hyun Jang, Inpyo Jeon, Dae-Hyun Jang, Ju Seok Ryu
  Annals of Rehabilitation Medicine.2019; 43(2): 234.     CrossRef