A patient with Down syndrome with a de novo derivative chromosome 21

Cetin Z., Yakut S., MIHÇI E., MANGUOĞLU A. E., Berker S., KESER İ., ...More

GENE, vol.507, no.2, pp.159-164, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 507 Issue: 2
  • Publication Date: 2012
  • Doi Number: 10.1016/j.gene.2012.07.018
  • Journal Name: GENE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.159-164
  • Keywords: Derivative chromosome 21, Partial trisomy 21, Down syndrome, Congenital heart disease, SYNDROME CRITICAL REGION, PARTIAL TRISOMY, HEART, REARRANGEMENTS, DYRK1A, BRAIN, GENE, OVEREXPRESSION, EXPRESSION, PROTEIN
  • Akdeniz University Affiliated: Yes


Pure partial trisomy of chromosome 21 is a rare event. The patients with this aberration are very important for setting up precise karyotype-phenotype correlations particularly in Down syndrome phenotype. We present here a patient with Down syndrome with a de novo derivative chromosome 21. Karyotype of the patient was designated as 46,XY,der(21)(p13)dup(21)(q11.2q21.3)dup(21)(q22.2q22.3) with regard to cytogenetic, FISH and array-CGH analyses. Non-continuous monosomic, disomic and trisomic chromosomal segments through the derivative chromosome 21 were detected by array-CGH analysis. STR analyses revealed maternal origin of the de novo derivative chromosome 21. The dual-specificity tyrosine (Y)-phosphorylation regulated kinase 1A (DYRK1A) and Down Syndrome Critical Region 1 (DSCR1) genes that are located in Down syndrome critical region, are supposed to be responsible for most of the clinical findings of Down syndrome. However, our patient is the first patient with Down syndrome whose clinical findings were provided in detail, with a de novo derivative chromosome 21 resulting from multiple chromosome breaks excluding DYRK1A and DSCR1 gene regions. (c) 2012 Elsevier B.V. All rights reserved.