© Kamla-Raj 2004                                                                          Int J Hum Genet, 4(3): 173-178 (2004)

 

 

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

 

Regine Schubert 1, Evelin Schröck 2, Thomas Ried 3 and Gesa Schwanitz1

 

1,Institute of Human Genetics, Bonn, Germany; 2Institute of Clinical Genetics,
Dresden, Germany; 3NCI, NIH, DHHS, Bethesda, MD, USA

 

KEYWORDS Spectral karyotyping; SKY; unbalanced translocation 12/14 de novo; dup 12q24; euchromatin-heterochromatin rearrangement

 

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.

 

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