Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages

Cura D. O., Bora E., Ozkalayci H., Kirbiyik O., Kutbay Y. B., Ercal D., ...Daha Fazla

CYTOGENETIC AND GENOME RESEARCH, cilt.158, sa.2, ss.83-87, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 158 Sayı: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1159/000500986
  • Dergi Adı: CYTOGENETIC AND GENOME RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.83-87
  • Anahtar Kelimeler: Chromosomal rearrangements, Conventional cytogenetics, Mosaic ring chromosome 21, Robertsonian (21;21) translocation
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

The case presented here describes a female patient with recurrent miscarriages and a normal microarray analysis result. However, the coexistence of a robertsonian (21;21) translocation and complementary mosaic ring chromosome 21 was detected by karyotyping and FISH analysis. Partial trisomy 21 was found with QF-PCR and microarray analysis in one of the fetuses. The aim of this report was to emphasize the diagnostic importance of conventional cytogenetics. (C) 2019 S. Karger AG, Basel