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

Cornel Popovici; Tiffany Busa; Chantal Missirian; Mathieu Milh; Anne Moncla; Nicole Philip

doi:10.1016/j.ejmg.2013.02.005

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

Cornel Popovici ^{1, 2, *} Tiffany Busa ³ Chantal Missirian ^{2, 3} Mathieu Milh ^{4, 1} Anne Moncla ^{2, 3} Nicole Philip ^{1, 3}

* Auteur correspondant

1 GMGF - Génétique Médicale et Génomique Fonctionnelle

2 Laboratoire de Génétique Chromosomique

3 Centre de Référence " Anomalies du Développement et Syndromes Malformatifs Sud - Est PACA "

4 Service de pédiatrie et neurologie pédiatrique

Abstract : 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.

keyword : 15q13.3 deletion mosaicism CHRNA7 twins

Type de document :

Article dans une revue

European Journal of Medical Genetics, Elsevier, 2013, 56 (5), pp.274-7. 〈10.1016/j.ejmg.2013.02.005〉

Domaine :

Sciences du Vivant [q-bio] / Génétique

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http://www.hal.inserm.fr/inserm-00799062
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Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.: Mosaic 15q13.3 deletion including CHRNA7 gene in MZ twins

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

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