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KMID : 0191120080230061097
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Journal of Korean Medical Science
2008 Volume.23 No. 6 p.1097 ~ p.1101
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Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization
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Shin Yong-Beom
Seo Eul-Ju
Chang Chul-Hun
Kim Hyung-Hoi
Nam Sang-Ook
Lee Eun-Yup
Son Han-Chul
Hwang Sang-Hyun
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Abstract
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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.
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KEYWORD
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Trisomy 1q41, Unbalanced Translocation, Partial Trisomy 1q Syndrome, Array CGH
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