cryptic subtelomeric rearrangements
Friday 26 October 2007
Cryptic subtelomeric rearrangements are undetectable using conventional cytogenetic methods.
They have been observed in the thalassaemia/MR syndrome (16pter), Wolf-Hirschhorn syndrome (4pter), Miller-Dieker syndrome (17pter), and the cri du chat syndrome (5pter).
Moreover, cryptic subtelomeric rearrangements have been found to account for 5-7.4% of moderately or severely mentally handicapped children.
Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J Med Genet. 2002 Apr;39(4):266-70. PMID: #11950856#