Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization.
10.3346/jkms.2008.23.6.1097
- Author:
Yong Beom SHIN
1
;
Sang Ook NAM
;
Eul Ju SEO
;
Hyung Hoi KIM
;
Chulhun L CHANG
;
Eun Yup LEE
;
Han Chul SON
;
Sang Hyun HWANG
Author Information
1. Department of Rehabilitation Medicine, Pusan National University, School of Medicine, Busan, Korea.
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Trisomy 1q41;
Unbalanced Translocation;
Partial Trisomy 1q Syndrome;
Array CGH
- MeSH:
Chromosomes, Human, Pair 1/*genetics;
Chromosomes, Human, Pair 11;
Comparative Genomic Hybridization;
Humans;
In Situ Hybridization, Fluorescence;
Infant;
Karyotyping;
Male;
Oligonucleotide Array Sequence Analysis;
Phenotype;
Translocation, Genetic;
*Trisomy
- From:Journal of Korean Medical Science
2008;23(6):1097-1101
- CountryRepublic of Korea
- Language:English
-
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.
