title: Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12.
abstract: Pure and complete 12p trisomy are rare. Here, we report on a unique patient with trisomy 12p syndrome due to centric fission of maternal chromosome 12. Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques revealed the proposita's karyotype to be 47,XX,+fis(12)(p10)mat whereas the maternal one was 47,XX,-12,+fis(12)(p10),+fis(12) (q10). This is the first report on centric fission of chromosome 12 leading to stable telocentrics, each with a fully functional centromere. Our observation shows that the centric fission of chromosome 12 can be a new mechanism for generation of a partial centromere and trisomy 12p syndrome.
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Cetin
authors.forename: Ercan
authors.initials: E
authors.lastname: Mihci
authors.forename: Sezin
authors.initials: S
authors.lastname: Yakut
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Keser
authors.forename: Sibel Berker
authors.initials: SB
authors.lastname: Karauzum
authors.forename: Guven
authors.initials: G
authors.lastname: Luleci
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002503:Centromere / Q000473:pathology*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D011596:Psychomotor Disorders / Q000235:genetics*; D014314:Trisomy / Q000235:genetics / Q000473:pathology