title: Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.
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.
authors: Laboratoire de Génétique Chromosomique, Département de Génétique Médicale, Hôpital Timone - Enfants, Assistance Publique - Hôpitaux de Marseille, Marseille, France. cornel.popovici@ap-hm.fr
authors: Cornel
authors: C
authors: Popovici
authors: Tiffany
authors: T
authors: Busa
authors: Chantal
authors: C
authors: Missirian
authors: Mathieu
authors: M
authors: Milh
authors: Anne
authors: A
authors: Moncla
authors: Nicole
authors: N
authors: Philip
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D015321:Gene Rearrangement; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D007959:Lymphocyte Culture Test, Mixed; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012640:Seizures / Q000235:genetics / Q000473:pathology; D014430:Twins, Monozygotic / Q000235:genetics*; D064569:alpha7 Nicotinic Acetylcholine Receptor / Q000235:genetics*
chemical_list: C579167:Chrna7 protein, human; D064569:alpha7 Nicotinic Acetylcholine Receptor