A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism
| Autor: | Tae Sik Jo, Jin-Hwa Moon, Chang-Ryul Kim, Eunsim Shin, Youngjin Choi, Se-Min Lee, Joo-Hwa Kim, In Joon Seol, Jae-Won Oh |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Microarray Developmental delay Chromosomal translocation Case Report In situ hybridization 030105 genetics & heredity Biology Pediatrics 03 medical and health sciences Ductus arteriosus medicine Metaphase 18q deletion 1q duplication lcsh:RJ1-570 Karyotype lcsh:Pediatrics Cerebral dysmyelination Dysmorphism medicine.anatomical_structure Array comparative genomic hybridization Pediatrics Perinatology and Child Health Comparative genomic hybridization |
| Zdroj: | Korean Journal of Pediatrics Korean Journal of Pediatrics, Vol 59, Iss 2, Pp 91-95 (2016) |
| ISSN: | 2092-7258 1738-1061 |
| Popis: | We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18)(q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities. |
| Databáze: | OpenAIRE |
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