title: A patient with Down syndrome with a de novo derivative chromosome 21.
abstract: 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.
authors: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors: Zafer
authors: Z
authors: Cetin
authors: Sezin
authors: S
authors: Yakut
authors: Ercan
authors: E
authors: Mihci
authors: Ayse Esra
authors: AE
authors: Manguoglu
authors: Sibel
authors: S
authors: Berker
authors: Ibrahim
authors: I
authors: Keser
authors: Guven
authors: G
authors: Luleci
mesh_terms: D002871:Chromosome Banding; D019457:Chromosome Breakage; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004268:DNA-Binding Proteins; D004314:Down Syndrome / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009124:Muscle Proteins / Q000235:genetics; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D014314:Trisomy; D000097603:Dyrk Kinases
chemical_list: D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009124:Muscle Proteins; D017346:Protein Serine-Threonine Kinases; D011505:Protein-Tyrosine Kinases; D000097603:Dyrk Kinases; C108612:RCAN1 protein, human