title: Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.
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.
authors.affiliation: Department of Rehabilitation Medicine, Pusan National University, School of Medicine, Busan, Korea.
authors.forename: Yong Beom
authors.initials: YB
authors.lastname: Shin
authors.forename: Sang Ook
authors.initials: SO
authors.lastname: Nam
authors.forename: Eul-Ju
authors.initials: EJ
authors.lastname: Seo
authors.forename: Hyung-Hoi
authors.initials: HH
authors.lastname: Kim
authors.forename: Chulhun L
authors.initials: CL
authors.lastname: Chang
authors.forename: Eun-Yup
authors.initials: EY
authors.lastname: Lee
authors.forename: Han-Chul
authors.initials: HC
authors.lastname: Son
authors.forename: Sang-Hyun
authors.initials: SH
authors.lastname: Hwang
mesh_terms: D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy