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Dear Editor, Few cases involving deletions and duplications of the short arm of chromosome 20 have been reported; these patients present various phenotypes, including developmental delays and dysmorphic features [1-10]. In the majority of cases, 20p deletions and duplications are accompanied by defects in other chromosomes [1-3]. Here, we report a patient with a complex partial deletion and duplication involving 20p only, identified by chromosomal microarray (CMA). A 3-year-old girl visited Severance hospital located in Shinchon, Seoul, in 2015 for evaluation of delayed speech and development. The patient had been managed for speech and developmental delays in our center for a year. There was no family history of delayed development, and her older sister and brother showed normal development. The patient was born at 34 weeks of gestation by cesarean section, and her birth weight was 3,840 g. Her growth parameters, weight, height, and head circumference were within normal ranges. Physical examination indicated mild craniofacial dysmorphisms, including a bulging head, prominent forehead, widely spaced eyes, wide nasal bridge, and a prominent lower jaw. She also exhibited pes plano valgus. Psychological assessment revealed psychomotor retardation with delayed social development. Direct sequencing of MECP2 revealed no pathogenic variant. Conventional G-banding chromosome analysis showed a duplication in 20p; however, the affected regions could not be designated accurately. Further CMA testing revealed a 928-kb deletion in 20p13 and a 6.6-Mb duplication of 20p13p12.3; the final karyotype was designated as arr 20p13 (61,661-1,043,325)×1, 20p13p12.3(1,045,639-7,604,026)×3. The patient’s speech development improved and normalized following two years of speech training. The genetic analysis in this study was conducted with the written informed consents from the parents of the patient. This study was exempted from approval by the institutional review board of the hospital (Fig. 1). Although various clinical features such as dysmorphic face, and language and developmental delay have been associated with partial 20p deletion and duplication, correlations between deletions, duplications, and phenotype are complicated by accompanying defects in other chromosomes. Deletions involving the short arm of chromosome 20 are rare. Most of these include the deletion of JAG1 located in 20p12.2, known to be related to Alagille syndrome, which affects the liver, heart, and other organs and manifests distinctive facial features [9]. Deletions of 20p13 excluding JAG1 are rarer and have been reported to be related to motor and speech development delays, varying degrees of mental retardation, various forms of epilepsy, and mild

Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development