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Article

Parental origin and mechanisms of formation of three cases of 12p tetrasomy.

Clinical genetics - 1 Jul 1996

Turleau C, Simon-Bouy B, Austruy E, Grisard M C, Lemaire F, Molina-Gomes D, Siffroi J P, Boué J

Abstract excerpt

Pallister-Killian syndrome is a clinically recognizable syndrome characterized by tissue-limited mosaicism for an extra 12p isochromosome. Very little is known about the underlying mechanism of this rare rearrangement. Microsatellite markers were studied from three fetuses with Pallister-Killian syndrome and their parents to determine the parent of origin and the cell division yielding the additional...

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Identifiers

PMID: 8891385
DOI: 10.1111/j.1399-0004.1996.tb02344.x

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Parental origin and mechanisms of formation of three cases of 12p tetrasomy.PMID 8891385Read ↗

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