Article
Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints.
American journal of medical genetics. Part A - 1 Jan 2004
Vermeulen Stefan, Menten Björn, Van Roy Nadine, Van Limbergen Heidi, De Paepe Anne, Mortier Geert, Speleman Frank
Abstract excerpt
Constitutional de novo complex chromosomal rearrangements (CCRs) are a rare finding in patients with mild to severe mental retardation. CCRs pose a challenge to the clinical cytogeneticist: generally CCRs are assumed to be the cause of the observed phenotypic abnormalities, but the complex nature of these chromosomal changes often hamper the accurate delineation of the chromosomal breakpoints and the...
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