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Mechanism of intrachromosomal triplications 15q11‐q13: A new clinical report
Author(s) -
Vialard François,
MigRavix Cécile,
Parain Dominique,
Depetris Danielle,
Portnoï MarieFrance,
Moirot Hélène,
Mattei MarieGeneviève
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10164
Subject(s) - meiosis , mechanism (biology) , biology , genetics , gene , physics , quantum mechanics
We describe here a patient with intrachromosomal triplication 15q11‐q13, a rare chromosomal event associated with severe mental retardation and intractable epilepsy. Cytogenetic studies including FISH on interphasic nuclei showed that the middle segment of the triplication was inverted in orientation. Molecular analyses demonstrated that the rearrangement was of maternal origin. Based on these cytogenetic and molecular data and those of the nine cases reported in the literature, we discuss the mechanistic origins of these triplications. We present several arguments for the mechanism involving two U‐type exchanges occurring simultaneously at the pachytene stage of meiosis. © 2003 Wiley‐Liss, Inc.