Inverted duplication with deletion: First interstitial case suggesting a novel undescribed mechanism of formation

Author:

Milosevic J.1,El Khattabi L.12,Roubergue A.3,Coussement A.1,Doummar D.4,Cuisset L.25,Le Tessier D.1,Flageul B.6,Viot G.7,Lebbar A.1,Dupont J.M.12

Affiliation:

1. Faculté de Médecine; Laboratoire de Cytogénétique Constitutionnelle; Hôpital Cochin; APHP; Université Paris Descartes; Paris France

2. INSERM U1016-UMR 8104 CNRS; Génomique; Epigénétique et Physiopathologie de la Reproduction; Institut Cochin; Paris France

3. Service de Neurologie; Hôpital Saint-Antoine; APHP; Paris France

4. Service de Neuropédiatrie; Hôpital Trousseau; APHP; Paris France

5. Faculté de Médecine; Biochimie et Génétique Moléculaire; Hôpital Cochin; APHP, Université Paris Descartes; Paris France

6. Service de Dermatologie; Hôpital Saint Louis; APHP; Paris France

7. Maternité Port Royal; Hôpital Cochin; APHP; Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Transitions in replication timing in a 340 kb region of human chromosomal R-Band 1p36.1;Brylawski;J Cell Biochem,2004

2. Unusual 8p inverted duplication deletion with telomere capture from 8q;Buysse;Eur J Med Genet,2009

3. The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications;Floridia;Am J Hum Genet,1996

4. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements;Giglio;Am J Hum Genet,2001

5. Inv dup (8) (p21.1-22.1): Further case report and a new hypothesis on the origin of the chromosome abnormality;Gorinati;Clin Genet,1991

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