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.

Keywords

15q13.3 deletion mosaicism CHRNA7 twins

Domains

Life Sciences [q-bio] Genetics

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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 : Connect in order to contact the contributor

https://www.hal.inserm.fr/inserm-00799062

Submitted on : Monday, March 11, 2013-2:47:19 PM

Last modification on : Thursday, October 21, 2021-3:59:00 AM

Long-term archiving on: Wednesday, June 12, 2013-6:05:14 AM

Dates and versions

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

Identifiers

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

Cite

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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