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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
Jacqueline R. Batanian,
Marthand S. Eswara,
Corresponding Author
Jacqueline R. Batanian
Medical Genetics Division, Department of Pediatrics, Health Sciences Center, St. Louis University School of Medicine, St. Louis, Missouri
Department of Pediatrics, Cardinal Glennon Children's Hospital, 1465 South Grand Blvd., St. Louis, MO 63104. E-mail: [email protected]Search for more papers by this authorMarthand S. Eswara
Division of Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California
Search for more papers by this authorJacqueline R. Batanian,
Marthand S. Eswara,
Corresponding Author
Jacqueline R. Batanian
Medical Genetics Division, Department of Pediatrics, Health Sciences Center, St. Louis University School of Medicine, St. Louis, Missouri
Department of Pediatrics, Cardinal Glennon Children's Hospital, 1465 South Grand Blvd., St. Louis, MO 63104. E-mail: [email protected]Search for more papers by this authorMarthand S. Eswara
Division of Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California
Search for more papers by this authorFirst published: 06 December 1998
Citations: 46
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. Am. J. Med. Genet. 78:44–51, 1998. © 1998 Wiley-Liss, Inc.
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Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: Two new cases and review of the literature.
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