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

doi:10.1016/j.ejmg.2005.04.018

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Article

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

European journal of medical genetics - 1 Jan 2000

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

Abstract excerpt

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...

Topics

Abnormalities, Multiple
Aneuploidy
Child
Chromosomes, Human, Pair 12
Craniofacial Abnormalities
Female
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability
Oligonucleotide Array Sequence Analysis
Phenotype

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Identifiers

PMID: 16179227
DOI: 10.1016/j.ejmg.2005.04.018

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