Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

Deletions in 15q13.3 belong to the most frequently identified recurrent CNVs, and lead to mental retardation, seizures and minor dysmorphism. We report on two monozygotic twin boys with a mosaic 1.5 Mb deletion in 15q13.3, including CHRNA7. The growth parameters were in the normal range for both twins. Both had language delay with hyperactivity, temper tantrums and poor social interaction but attended regular school. The percentage of abnormal cells was 40% on lymphocytes, and 25 and 35% on buccal smear in the first and second twins, respectively. The mosaicism for the 15q13.3 deletion can explain the milder phenotype observed in these two boys.

Mots clés

15q13.3 deletion mosaicism CHRNA7 twins

Domaines

Génétique

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Mosaic_15q13_3_deletion_including_CHRNA7_gene_in_monozygotic_twins_-_final_version.pdf (491.25 Ko)

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Cornel Popovici : Connectez-vous pour contacter le contributeur

https://inserm.hal.science/inserm-00799062

Soumis le : lundi 11 mars 2013-14:47:19

Dernière modification le : vendredi 24 mars 2023-14:52:56

Archivage à long terme le : mercredi 12 juin 2013-06:05:14

Dates et versions

inserm-00799062 , version 1 (11-03-2013)

Identifiants

HAL Id : inserm-00799062 , version 1
DOI : 10.1016/j.ejmg.2013.02.005
PUBMED : 23454271

Citer

Cornel Popovici, Tiffany Busa, Chantal Missirian, Mathieu Milh, Anne Moncla, et al.. Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.: Mosaic 15q13.3 deletion including CHRNA7 gene in MZ twins. European Journal of Medical Genetics, 2013, 56 (5), pp.274-7. ⟨10.1016/j.ejmg.2013.02.005⟩. ⟨inserm-00799062⟩

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