Korean J Pediatr.  2016 Feb;59(2):91-95. 10.3345/kjp.2016.59.2.91.

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism

• Choi YJ
• Shin E
• Jo TS
• Moon JH
• Lee SM
• Kim JH
• Oh JW
• Kim CR
• Seol IJ

• KMID: 2155928
• DOI: http://doi.org/10.3345/kjp.2016.59.2.91

Abstract

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.

Keyword

1q duplication; 18q deletion; Array comparative genomic hybridization; Developmental delay; Dysmorphism

MeSH Terms

Brain
Comparative Genomic Hybridization
Ductus Arteriosus, Patent
Hearing
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotype
Male
Metaphase
Parents