J Korean Med Sci.
2008 Dec;23(6):1097-1101. 10.3346/jkms.2008.23.6.1097.
Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization
- Affiliations
-
- 1Department of Rehabilitation Medicine, Pusan National University, School of Medicine, Busan, Korea.
- 2Department of Pediatrics, Pusan National University, School of Medicine, Busan, Korea.
- 3Department of Laboratory Medicine, Pusan National University, School of Medicine, Busan, Korea. mindcatch@hanmail.net
- 4Medical Research Institute, Pusan National University, Busan, Korea.
- 5Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- KMID: 1107538
- DOI: http://doi.org/10.3346/jkms.2008.23.6.1097
Abstract
- Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby presented with a mild phenotype, characterized by a triangular face, almond-shaped eyes, low ears, short stature with relatively long legs, and mild psychomotor retardation. We utilized whole genomic array comparative genome hybridization (CGH) with 4,000 selected bacterial artificial chromosomes (BACs) to define the chromosomal breakpoints and to delineate the extent of the partial trisomy in more detail. To our knowledge, this is the first case of nearly pure "partial trisomy 1q41" defined by whole genomic array CGH.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Array-based Comparative Genomic Hybridization and Its Application to Cancer Genomes and Human Genetics
- Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders
- Current Status and Future Clinical Applications of Array.based Comparative Genomic Hybridization
- Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
- A Case of Partial Trisomy 15q25.3-qter
