A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins

ATLI E. İ., ATLI E., YALÇINTEPE S., GÜRKAN H.

Molecular Syndromology, cilt.10, sa.6, ss.320-326, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1159/000505004
  • Dergi Adı: Molecular Syndromology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.320-326
  • Anahtar Kelimeler: Array CGH, Autism, Chromosomal microarray analysis, Copy number variations, Deletion syndrome, Dysmorphology, FISH, Genotype-phenotype correlation, Mosaicism
  • Trakya Üniversitesi Adresli: Evet

Özet

Balanced de novo non-robertsonian translocations (non-RTs), which involve acrocentric chromosomes, are rare findings in clinical cytogenetics and may be associated with an abnormal phenotype. These translocations, detected by conventional karyotyping, are found in approximately 1:1,000 neonates. In most of these cases, one of the parents carries the same translocation. In this study, we report a rare non-RT involving chromosomes 15 and 22 defined as 45,XX,-22,der(15;22)t(15;22)/46,XX,der(15)t(15;22),der(22). To our knowledge, this is the first report of a non-RT t(15;22) with these breakpoints.