Article
A patient with Down syndrome with a de novo derivative chromosome 21.
Gene - 10 Oct 2012
Cetin Zafer, Yakut Sezin, Mihci Ercan, Manguoglu Ayse Esra, Berker Sibel, Keser Ibrahim, Luleci Guven
Abstract excerpt
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...
Topics
- Chromosome Banding
- Chromosome Breakage
- Chromosomes, Human, Pair 21
- Comparative Genomic Hybridization
- DNA-Binding Proteins
- Down Syndrome
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Intracellular Signaling Peptides and Proteins
- Karyotyping
- Male
- Muscle Proteins
- Phenotype