A rare cause of mental retardation and epilepsy: pediatric patient with 22q duplication and 6p deletion

Bozdogan S. T., Perk P., Altunbasak S., BİŞGİN A.

CUKUROVA MEDICAL JOURNAL, vol.44, pp.28-31, 2019 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 44
  • Publication Date: 2019
  • Journal Name: CUKUROVA MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.28-31
  • Çukurova University Affiliated: Yes

Abstract

Mental retardation is a public health problem that has been seen approximately 1-4% of the population. Conventional cytogenetic analysis is still the first tier methodology in these cases. Chromosomal microarray analysis also become a common diagnostic application as a clinical tool for intellectual disabilities/developmental delay, autism spectrum disorders and multiple congenital anomalies. The reason of a possible structural chromosomal abnormality that might effect the gene dosage in normal karyotyped patients has been revealed by microarray analysis. Though this case report emphasizes the importance of molecular karyotyping and we present the identified 6p deletion together with 22q duplication which have not been previously presented.