title: Familial trisomy 6p in mother and daughter.
abstract: Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial tandem duplication. The patient, an 11-year-old female, presented with mild dysmorphic features, moderate intellectual disability with behavioral disturbances, immunodeficiency, and epilepsy. Conventional cytogenetic analysis showed a duplication of the 6p region in the patient and in her mother presenting with a partially overlapping phenotype. The rearrangement was confirmed and defined by molecular cytogenetic analysis, including FISH and array CGH analysis showing a gain of ~13.8 Mb from 6p12.3 to 6p21.31. The phenotype of a pure partial trisomy 6p is extremely heterogeneous depending on the gene contents of the duplicated region. The clinical features of our patients have been compared with overlapping cases from the literature.
authors.affiliation: Dipartimento di Patologia Generale, Seconda Università degli Studi di Napoli, Napoli, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Savarese
authors.forename: Anna
authors.initials: A
authors.lastname: Grandone
authors.forename: Lucia
authors.initials: L
authors.lastname: Perone
authors.forename: Francesca Del Vecchio
authors.initials: Fdel V
authors.lastname: Blanco
authors.forename: Giuseppina
authors.initials: G
authors.lastname: De Luca
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Di Fruscio
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Fogu
authors.forename: Giulio
authors.initials: G
authors.lastname: Piluso
authors.forename: Laura
authors.initials: L
authors.lastname: Perrone
authors.forename: Emanuele Miraglia
authors.initials: EM
authors.lastname: del Giudice
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Nigro
mesh_terms: D001827:Body Height / Q000235:genetics; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D009035:Mothers; D009679:Nuclear Family; D010641:Phenotype; D014314:Trisomy / Q000235:genetics* / Q000503:physiopathology