Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization

Yong Beom Shin, Sang Ook Nam, Eul-Ju Seo, Hyung-Hoi Kim, Chulhun L. Chang, Eun-Yup Lee, Han-Chul Son, Sang-Hyun Hwang
2008 Journal of Korean medical science  
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
more » ... lected 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.
doi:10.3346/jkms.2008.23.6.1097 pmid:19119457 pmcid:PMC2610647 fatcat:tnwbq7qjvrad7p4jrqf467q4vm