Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer

ALTINER Ş., KUTLAY N., ILGIN RUHİ H.

CYTOGENETIC AND GENOME RESEARCH, cilt.160, sa.1, ss.11-17, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 160 Sayı: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1159/000505805
  • Dergi Adı: CYTOGENETIC AND GENOME RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.11-17
  • Anahtar Kelimeler: Chromosome 8, Chromothripsis, KAT6A, Small supernumerary marker chromosome (sSMC), Trisomy rescue, CONSTITUTIONAL TRISOMY-8, MYELODYSPLASTIC SYNDROME, CHROMOTHRIPSIS, MAINTENANCE, DISEASE, SSMC
  • Ankara Üniversitesi Adresli: Evet

Özet

Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient. Formation of the sSMC(8) can probably be explained by a multi-step process beginning with maternal meiotic nondisjunction, followed by post-zygotic anaphase lag, and resulting in chromothripsis. Chromothripsis is a chromosomal rearrangement which occurs by breakage of one or more chromosomes leading to a fusion of surviving chromosome pieces. This case is a good example for emphasizing the importance of conventional karyotyping from PHA-induced peripheral blood lymphocytes and examining tissues other than bone marrow in patients with inconsistent genotype and phenotype.