Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.

Sylvie Jaillard; Philippe Loget; Josette Lucas; Christèle Dubourg; Gwenaelle Le Bouar; Florence Demurger; Isabelle Bertorello; Véronique David; Patrice Poulain; Sylvie Odent; Marc-Antoine Belaud-Rotureau

doi:10.1016/j.ejmg.2010.11.001

Journal articles

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.

Sylvie Jaillard ^{1, 2, *} Philippe Loget ³ Josette Lucas ² Christèle Dubourg ^{1, 4} Gwenaelle Le Bouar ⁵ Florence Demurger ^{2, 6} Isabelle Bertorello ⁵ Véronique David ^{1, 4} Patrice Poulain ⁵ Sylvie Odent ^{1, 6} Marc-Antoine Belaud-Rotureau ^{1, 2}

* Corresponding author

1 IGDR - Institut de Génétique et Développement de Rennes

2 Service de Cytogénétique et de Biologie Cellulaire

3 Service d'anatomie et cytologie pathologiques [Rennes]

4 Laboratoire de Génétique Moléculaire

5 Service de Gynécologie et Obstétrique [Rennes]

6 Service de Génétique Clinique

Abstract : We report the case of a female patient exhibiting multiple congenital malformations including diaphragmatic hernia and heart defect. Cytogenetic studies (including karyotype, FISH and array-CGH) showed a de novo terminal deletion (6.9 Mb) on chromosome 15 in association with a recombinant X chromosome bearing a 9-Mb Xp duplication and a 46-Mb Xq deletion distal to XIST. The recombinant X chromosome was caused by a maternal inv(X)(p22.31q22.3). The X chromosome inactivation pattern was skewed in the patient suggesting a possible inactivation of the recombinant X chromosome. Considering these results, the phenotype was linked to the de novo terminal 15q deletion. These results strengthen the assumption that array-CGH should be applied to each fetus/newborn with multiple congenital malformations.

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Development Biology

Life Sciences [q-bio] / Genetics

Complete list of metadatas

https://www.hal.inserm.fr/inserm-00543854
Contributor : Hervé de Villemeur <>
Submitted on : Monday, December 6, 2010 - 5:41:27 PM
Last modification on : Thursday, January 14, 2021 - 11:19:49 AM

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.

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Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.

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