Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization

Clinical Genetics
T JohannessonJ Wahlström

Abstract

A 7-year-old boy with mental retardation had apparently balanced reciprocal translocations, involving the telomeric regions of chromosomes 1p and 4q, which was detected by routine chromosome analysis. Fluorescence in situ hybridization (FISH) was used and also revealed the telomeric region of chromosome 16p to be involved in a still apparently balanced translocation-complex, impossible to discover with classical cytogenetic analysis. We want to emphasize the importance of FISH in detecting small chromosomal aberrations. We discuss whether the abnormal phenotype is caused by unbalanced karyotype with cryptic undetected translocations or small deletions or mutations in the translocation-breakpoints.

References

Jan 1, 1991·Hereditas·T JohannessonJ Wahlström
Jul 1, 1991·Clinical Genetics·G Del PortoC Romano
May 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·D PinkelJ W Gray
Jul 15, 1995·Biological Psychiatry·H KunugiH Kazamatsuri
Nov 15, 1994·American Journal of Medical Genetics·D A BatistaG Stetten
Jan 1, 1994·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·S GilgenkrantzM Chery

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Citations

May 7, 2002·American Journal of Medical Genetics·Sue Ann BerendCarlos A Bacino
Sep 18, 2008·American Journal of Medical Genetics. Part a·Aziza LebbarJean-Michel Dupont
Feb 27, 2017·Journal of Assisted Reproduction and Genetics·Natalia TrpchevskaAtanas Shterev

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