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

Journal of Korean Medical Science
Yong Beom ShinSang-Hyun Hwang

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.

References

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Citations

Jul 7, 2010·The Korean journal of laboratory medicine·Jong Ho LeeBo Chan Jung
May 26, 2018·Human Genome Variation·Hirokazu MorokawaTomoki Kosho

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Methods Mentioned

BETA
cesarian section
PCR

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