De novo complex chromosome rearrangement: a study of two patients

Melo, D.G.; Huber, J.; Giuliani, L.R.; Mazzucatto, L.F.; Riegel, M.; Pina-Neto, J.M.

Genetic Counseling 15(3): 303-310

2004


ISSN/ISBN: 1015-8146
PMID: 15517822
Document Number: 570685
Do novo complex chromosome rearrangement: A study of two patients: Complex chromosome rearrangements (CCR) involving multiple breaks in two or more chromosomes are rare. We describe a girl with development delay and overgrowth who presents a nine-break apparently balanced do novo rearrangement involving chromosomes 1, 2, 3, 4 and 12, and a boy with developmental delay and seizures with a complex three-chromosome apparently balanced de novo rearrangement involving chromosomes 2, 7 and 13. The relationship between clinical abnormalities and apparently balanced rearrangements is discussed.

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