Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.

American Journal of Medical Genetics. Part a
Cheryl DescipioIan D Krantz

Abstract

Two brothers, with dissimilar clinical features, were each found to have different abnormalities of chromosome 20 by subtelomere fluorescence in situ hybridization (FISH). The proband had deletion of 20p subtelomere and duplication of 20q subtelomere, while his brother was found to have a duplication of 20p subtelomere and deletion of 20q subtelomere. Parental cytogenetic studies were initially thought to be normal, both by G-banding and by subtelomere FISH analysis. Since chromosome 20 is a metacentric chromosome and an inversion was suspected, we used anchored FISH to assist in identifying a possible inversion. This approach employed concomitant hybridization of a FISH probe to the short (p) arm of chromosome 20 with the 20q subtelomere probe. We identified a cytogenetically non-visible, mosaic pericentric inversion of one of the maternal chromosome 20 homologs, providing a mechanistic explanation for the chromosomal abnormalities present in these brothers. Array comparative genomic hybridization (CGH) with both a custom-made BAC and cosmid-based subtelomere specific array (TEL array) and a commercially available SNP-based array confirmed and further characterized these rearrangements, identifying this as the largest pericent...Continue Reading

References

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Feb 13, 2002·American Journal of Medical Genetics·Blaise ClarksonIkuko Teshima
Feb 13, 2002·American Journal of Medical Genetics·Britt-Marie AnderlidMagnus Nordenskjöld
Jul 21, 2004·American Journal of Medical Genetics. Part a·Amy E RobertsMira Irons
Sep 15, 2005·American Journal of Medical Genetics. Part a·Azarnouche ArdalanSylvie Girard-Orgeolet
Dec 28, 2005·European Journal of Medical Genetics·Anna BaronciniElisa Calzolari
Jul 17, 2007·American Journal of Medical Genetics. Part a·Blake C BallifLisa G Shaffer
Feb 8, 2008·American Journal of Medical Genetics. Part a·Cheryl DeScipioHarold Riethman

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Citations

Mar 13, 2015·Journal of Human Genetics·Meena BalasubramanianMichael James Parker
Jun 24, 2014·American Journal of Medical Genetics. Part a·Lois J StarrAnn Haskins Olney
Jan 20, 2012·Annals of Laboratory Medicine·Jeong-Eun KangJongyoun Yi
Dec 7, 2013·American Journal of Medical Genetics. Part a·Jacqueline R BatanianAlan P Knutsen
Apr 25, 2013·American Journal of Medical Genetics. Part a·Anne-Laure Mosca-BoidronLaurence Faivre

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