Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints.
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.
Lee
Ni-Chung
NC
Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
Chen
Ming
M
Ma
Gwo-Chin
GC
Lee
Dong-Jay
DJ
Wang
Tzu-Jou
TJ
Ke
Yu-Yuan
YY
Chien
Yin-Hsiu
YH
Hwu
Wuh-Liang
WL
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