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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.

SUBMITTER: Shin YB

PROVIDER: S-EPMC2610647 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature

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Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.

Shin Yong Beom YB Nam Sang Ook SO Seo Eul-Ju EJ Kim Hyung-Hoi HH Chang Chulhun L CL Lee Eun-Yup EY Son Han-Chul HC Hwang Sang-Hyun SH

Journal of Korean medical science 20081224 6

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 se ...[more]

PMID: 19119457

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Dataset Information

Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.

Publications

Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.

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