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

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

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

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.

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

For similar pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research abstracts see: pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research

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

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: European journal of medical genetics

VOLUME: 48

Page Numbers: 319-27

Journal Abbreviation: Eur J Med Genet

ISSN: 1769-7212

DAY: 28

MONTH: 05

YEAR: 2008

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

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LANGUAGE: eng

NlmUniqueID: 101247089

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

KEYWORDS: Syndrome

MESH TERMS: genetics

Chemical & Substance for Abstract: Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. Information

Substance Name: Genetic Markers

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Grant and Affiliation Information for Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

AFFILIATION: Center for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium. Joris.Vermeesch@med.kuleuven.ac.be

Country: Netherlands

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MEDLINETA: Eur J Med Genet

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