Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study

European Journal of Medical Genetics
Valérie DelagueAndré Mégarbané

Abstract

A screening for submicroscopic rearrangements using specific polymorphic microsatellite markers from the subtelomeric regions of all chromosome arms was performed in 34 independent Lebanese families, including 45 patients with idiopathic mental retardation plus additional features. Five cryptic rearrangements were found in five different families, but subsequent FISH studies confirmed only three of those, showing a proportion of nearly 9% of subtelomeric rearrangements in our population. Two patients presented a de novo deletion from paternal origin, one involving telomere 3p, and another telomere 7p. An unbalanced paternally inherited translocation was detected in two patients from the same family resulting in both trisomy for telomere 5q and monosomy for telomere 6p.

References

Dec 22, 1999·Nucleic Acids Research·J A ArmourG Cross
Mar 10, 2001·Journal of Medical Genetics·B B de VriesR M Winter
Jun 17, 2003·Journal of Medical Genetics·B B A De VriesC van Ravenswaaij-Arts
Oct 14, 2003·American Journal of Medical Genetics. Part a·Robert P EricksonJan P Dumanski
Apr 24, 2004·American Journal of Human Genetics·Thomas FernandezMatthew W State
Jul 2, 2004·Prenatal Diagnosis·Chih-Ping ChenWayseen Wang
Feb 17, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Vaidehi JobanputraDorothy Warburton

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