Molecular and Genetic Medicine

Dr, Deputy Chairman of Medical Genetic Unite, Pediatrics Department, Maternity Children Hospital Al-hassa, Hofuf, Saudi Arabia

Publications

• Research Article   
  Rare Double Aneuploidy in Down Syndrome (Down-Klinefelter Syndrome)
  Author(s): Al-Buali Majed J*, Al-Nahwi Fawatim A, Al-Nowaiser Naziha A, Al-Ali Rhaya A, Al-Khamis Abdullah H and Al-Bahrani Hassan M
  
  Background: The chromosomal aneuploidy described as Cytogenetic condition characterized by abnormality in numbers of the chromosome. Aneuploid patient either trisomy or monosomy, can occur in both sex chromosomes as well as autosome chromosomes. However, double aneuploidies involving both sex and autosome chromosomes relatively a rare phenomenon. In present study, we reported a double aneuploidy (Down-Klinefelter syndrome) in infant from Saudi Arabia. Materials and Methods: In the present investigation, chromosomal analysis (standard chromosomal karyotyping) and fluorescence in situ hybridization (FISH) were performed according to the standard protocols. Results: Here, we report a single affected individual (boy) having Saudi origin, suffering from double chromosomal aneuploidy. The main presenting complaint is the.. Read More»
  DOI: 10.37421/jmgm.2020.14.444

  Abstract HTML PDF