Pure and Complete 12p Trisomy Due To a Maternal Centric Fission of Chromosome 12

Cetin Z., MIHÇI E., Yakut S., KESER İ., Karauzum S. B., Luleci G.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.155A, sa.2, ss.349-352, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 155A Sayı: 2
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1002/ajmg.a.33811
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.349-352
  • Anahtar Kelimeler: trisomy 12p syndrome, pure trisomy 12p, centric fission, complete trisomy 12p, INVERTED TANDEM DUPLICATION, DE-NOVO, PATIENT, ORIGIN, IDENTIFICATION, FLUORESCENCE, MOSAICISM, LIBRARIES, FUSION, CHILD
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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. (C) 2011 Wiley-Liss, Inc.