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2004•International Journal of Human GeneticsRequires access

Spectral Karyotyping (SKY) permits the Characterisation of a de Novo unbalanced Translocation 46, XY, der(14)t(12;14)

Regine Schubert, Evelin Schröck, Thomas Ried, Gesa Schwanitz

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Abstract

A boy with a duplication 12q24 to qter shows the characteristic phenotype of this chromosome abnormality. The aberration could be analysed as an unbalanced translocation 12/14 de novo by combining different banding techniques with FISH and SKY. Heterologous euchromatin translocations on the heterochromatic short arm regions of the acrocentrics are an extremely rare type of rearrangement.

About this research paper

What this paper is about

A boy with a duplication 12q24 to qter shows the characteristic phenotype of this chromosome abnormality. The aberration could be analysed as an unbalanced translocation 12/14 de novo by combining different banding techniques with FISH and SKY. Heterologous euchromatin translocations on the heterochromatic short arm regions of the acrocentrics are an extremely rare type of rearrangement.

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Available abstract

A boy with a duplication 12q24 to qter shows the characteristic phenotype of this chromosome abnormality. The aberration could be analysed as an unbalanced translocation 12/14 de novo by combining different banding techniques with FISH and SKY. Heterologous euchromatin translocations on the heterochromatic short arm regions of the acrocentrics are an extremely rare type of rearrangement.

Key concepts: Chromosomal translocation, Karyotype, Euchromatin, Biology, Genetics, Heterochromatin, Breakpoint, Sky

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Spectral Karyotyping (SKY) permits the Characterisation of a de Novo unbalanced Translocation 46, XY, der(14)t(12;14) — Research Paper | ScholarLens