title: Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints.
abstract: Here we report on a girl with minor facial anomalies, cleft palate, seizures, microcephaly, psychomotor retardation, and a congenital heart defect. Complex of cytogenetic methods [GTG-banding, spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), multicolor banding (mBAND), and comparative genomic hybridization (array CGH)] showed complex chromosomal rearrangements (CCRs) involving chromosomes 6, 10, and 11 and 4 deletions at the breakpoints. Her father had an unrelated translocation between chromosomes 3 and 16, suggesting the possibility of an autosomal dominant trait that predisposes to complex synapses and recombination between multiple chromosomes during meiosis. This study demonstrates the power of combining available chromosome analysis technologies in resolving CCR.
authors.affiliation: Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Ni-Chung
authors.initials: NC
authors.lastname: Lee
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
authors.forename: Gwo-Chin
authors.initials: GC
authors.lastname: Ma
authors.forename: Dong-Jay
authors.initials: DJ
authors.lastname: Lee
authors.forename: Tzu-Jou
authors.initials: TJ
authors.lastname: Wang
authors.forename: Yu-Yuan
authors.initials: YY
authors.lastname: Ke
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D056905:Chromosome Breakpoints; D002879:Chromosomes, Human, Pair 10; D002880:Chromosomes, Human, Pair 11; D002896:Chromosomes, Human, Pair 6; D020732:Cytogenetic Analysis / Q000379:methods*; D005190:Family; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D008540:Meiosis; D017384:Sequence Deletion