Am J Med Genet. 1998 Jun 16;78(1):44-51.

De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review.

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Department of Pediatrics, Health Sciences Center, St. Louis University School of Medicine, Missouri, USA. BATANIJR@SLU.EDU

Abstract

We describe a complex and unique, de novo apparently balanced translocation involving chromosomes 4, 18, and 21 with 4 breakpoints, in a patient who was referred for an evaluation of possible fragile-X syndrome. Fluorescence in situ hybridization (FISH) confirmed the complexity of the rearrangement and showed the derivative 21 to be composed of 3 distinct segments derived from chromosomes 21, 18, and 4. The derivative chromosome 18 had undergone a double translocation, the first such event to be described in constitutional complex chromosomal rearrangements (CCRs) involving chromosome 18. A review of these CCRs suggests the existence of a breakpoint "hot spot" on 18q21.

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De novo apparently balanced complex chromosome rearrangement (CCR) involving chr...
De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review.
Am J Med Genet. 1998 Jun 16 ;78(1):44-51.

PubMed
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Am J Med Genet. 1994 Nov 15 ;53(3):255-63.

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J Med Genet. 1979 Jun ;16(3):234-5.

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Am J Med Genet. 1987 Apr ;26(4):771-82.

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De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review.

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