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

• Published in: Gene Vol. 507; no. 2; pp. 159 - 164
• Main Authors: Cetin, Zafer, Yakut, Sezin, Mihci, Ercan, Manguoglu, Ayse Esra, Berker, Sibel, Keser, Ibrahim, Luleci, Guven
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 10.10.2012
• Subjects: Chromosome Banding; Chromosome Breakage; chromosomes; Chromosomes, Human, Pair 21 - genetics; Comparative Genomic Hybridization; Congenital heart disease; Derivative chromosome 21; DNA-Binding Proteins; Down syndrome; Down Syndrome - genetics; Dyrk Kinases; fluorescence in situ hybridization; genes; Humans; In Situ Hybridization, Fluorescence; Infant; Intracellular Signaling Peptides and Proteins - genetics; Karyotyping; Male; monosomics; Muscle Proteins - genetics; Partial trisomy 21; patients; Phenotype; Protein Serine-Threonine Kinases - genetics; Protein-Tyrosine Kinases - genetics; trisomics; Trisomy; LOH; Derivative chromosome 21; VSD; DYRK1A; PHA; UPD; CNS; dim; WCP21; MMBIR; TOF; Congenital heart disease; Down syndrome; FoSTeS; Partial trisomy 21; DSCHD; DSCR1; SNPs; UCSC; NAHR; GTG; NHEJ
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2012.07.018

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. ► We present here a patient with Down syndrome and a de novo derivative chromosome 21. ► STR analysis showed that de novo derivative chromosome was maternal in origin. ► Monosomic, disomic and trisomic chromosomal segments were detected by array-CGH. ► Both the DYRK1A and DSCR1 genes were not duplicated. ► DYRK1A and DSCR1 genes might not have strong contributions on Down syndrome phenotype.