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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.

References

- 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