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Parental origin and mechanisms of formation of three eases of 12p tetrasomy
Author(s) -
Turleau Catherine,
SimonBouy Brigitte,
Austruy Estelle,
Grisard MarieClaude,
Lemaire Françoise,
MolinaGomes Denise,
Siffroi JeanPierre,
Boué Joëlle
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02344.x
Subject(s) - isochromosome , tetrasomy , genetics , biology , aneuploidy , allele , meiosis , chromosome , karyotype , gene
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 isochromosome. In two cases the isochromosome contained the same allele(s) as a normal transmitted chromosome 12, one paternal and one maternal in origin. A third case showed inheritance of two different maternal alleles, indicating that at least one meiotic error was involved in the ultimate formation of the extra isochromosome.