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Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12

✍ Scribed by Zafer Cetin; Ercan Mihci; Sezin Yakut; Ibrahim Keser; Sibel Berker Karauzum; Guven Luleci

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 124 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33811

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✦ Synopsis

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. © 2011 Wiley‐Liss, Inc.

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