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. - Inserm - Institut national de la santé et de la recherche médicale Access content directly
Journal Articles European Journal of Medical Genetics Year : 2011

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.

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.

Dates and versions

inserm-00543854 , version 1 (06-12-2010)

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Sylvie Jaillard, Philippe Loget, Josette Lucas, Christèle Dubourg, Gwenaelle Le Bouar, et al.. 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.. European Journal of Medical Genetics, 2011, 54 (2), pp.186-8. ⟨10.1016/j.ejmg.2010.11.001⟩. ⟨inserm-00543854⟩
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