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Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype


Vermeesch, Joris Robert; Melotte, Cindy; Salden, Ivo; Riegel, Mariluce; Trifnov, Vladimir; Polityko, Anna; Rumyantseva, Natalia; Naumchik, Irina; Starke, Heike; Matthijs, Gert; Schinzel, Albert; Fryns, Jean-Pierre; Liehr, Thomas (2005). Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. European Journal of Medical Genetics, 48(3):319-327.

Abstract

A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is only the second report of a marker with a neocentromere 12pter and the molecular fine mapping of the duplicated region further refines the 12p region defining the Pallister-Killian syndrome phenotype. In addition, we show the feasibility of using microdissected chromosomes or chromosomal fragments to molecularly map the chromosomal breakpoints on array CGH. This technology may aid in the identification of chromosomal translocation breakpoints.

Abstract

A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is only the second report of a marker with a neocentromere 12pter and the molecular fine mapping of the duplicated region further refines the 12p region defining the Pallister-Killian syndrome phenotype. In addition, we show the feasibility of using microdissected chromosomes or chromosomal fragments to molecularly map the chromosomal breakpoints on array CGH. This technology may aid in the identification of chromosomal translocation breakpoints.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:25 June 2005
Deposited On:25 Jun 2021 09:35
Last Modified:25 Apr 2024 01:37
Publisher:Elsevier
ISSN:1769-7212
OA Status:Closed
Publisher DOI:https://doi.org/10.1016/j.ejmg.2005.04.018
PubMed ID:16179227