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Ebstein Anomaly Associated with Rearrangements of Chromosomal Region 11Q by de Lonlay-Debeney, Pascale; de Blois, Marie-Christine; Bonnet, Damien; Amiel, Jeanne; Abadie, Vronique; Picq, Monique; Lyonnet, Stanislas; Sidi, Daniel; Munnich, Arnold; Vekemans, Michel; Cormier-Daire, Valrie is a scholarly article available to read on EtoBox.

What is Ebstein Anomaly Associated with Rearrangements of Chromosomal Region 11Q about?

Ebstein anomaly (EA) is a relatively uncommon congenital heart defect and it is very rarely associated with a chromosomal anomaly. We report two distinct rearrangements of the chromosomal region 11q arm in two unrelated patients with Ebstein anomaly, renal malformation, minor anomalies, and the Pierre Robin sequence. The first patient had an interstitial deletion of chromosome 11 [46,XY,del(11)(11q21q23), and the other had a tertiary trisomy of chromosome 11qter (47,XX,+der(22)t(11;22)(q23; q11.2) Its association with either a chromosome 11q deletion or a duplication in some individuals suggests that a rearrangement of the 11q region is likely to cause a shift of the individuals' underlying liability to develop EA above a certain threshold. Am. J.

Author

de Lonlay-Debeney, Pascale; de Blois, Marie-Christine; Bonnet, Damien; Amiel, Jeanne; Abadie, Vronique; Picq, Monique; Lyonnet, Stanislas; Sidi, Daniel; Munnich, Arnold; Vekemans, Michel; Cormier-Daire, Valrie

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1998

Language

EN