De 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 de 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.
Melo
D G
DG
Department of Genetics, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil.
Huber
J
J
Giuliani
L R
LR
Mazzucatto
L F
LF
Riegel
M
M
Pina-Neto
J M
JM
D000293:Adolescent; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000150:complications; D009123:Muscle Hypotonia / Q000150:complications; D014178:Translocation, Genetic