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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.

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.
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https://www.hal.inserm.fr/inserm-00543854
Contributor : Hervé de Villemeur <>
Submitted on : Monday, December 6, 2010 - 5:41:27 PM
Last modification on : Wednesday, May 16, 2018 - 11:24:04 AM

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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, Elsevier, 2011, 54 (2), pp.186-8. ⟨10.1016/j.ejmg.2010.11.001⟩. ⟨inserm-00543854⟩

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