Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients


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Demirhan O., Tunc E.

CHROMOSOMA, vol.131, no.4, pp.225-237, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 131 Issue: 4
  • Publication Date: 2022
  • Doi Number: 10.1007/s00412-022-00782-3
  • Journal Name: CHROMOSOMA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.225-237
  • Keywords: Cytogenetic analysis, Chromosomal abnormalities, Genetic counseling, Turkey, PERICENTRIC-INVERSION, DOWNS-SYNDROME, PATERNAL NONDISJUNCTION, PRENATAL-DIAGNOSIS, DELETION, REARRANGEMENTS, EPIDEMIOLOGY, ABERRATIONS, MECHANISMS, TRISOMY-21
  • Çukurova University Affiliated: Yes

Abstract

Cytogenetic analysis is helpful in diagnostic workup of patients having prenatal or early postnatal medical problems and provides a basis for genetic counseling or deciding on clinical treatment options. Chromosomal abnormalities (CAs) constitute one of the most important category of genetic defects which have the potential to cause irreversible disorders. In this study, chromosome analysis results of 11,420 patients having congenital malformations or suspected of having chromosomal abnormalities, who were referred to cukurova University Research and Training Hospital Cytogenetic Laboratory over a 16-year period, were investigated, retrospectively. Of all patients analyzed, CAs were found in 1768 cases, accounting for 15.5% of all cases. It was observed that 1175 (15.5%) of CAs were numerical (10.3%) and 593 (5.2%) were structural chromosome abnormalities. Among numerical CAs, Down syndrome (DS), Turner syndrome (TS) and Klinefelter syndrome (KS) constituted common categories which were observed in 7, 1.1 and 0.9% of all cases, respectively. Among the structural CAs, translocations, inversions, fragilities, deletions,, and others were the most common categories and constituted 2.2, 0.9, 0.9, 0.7, 0.3, and 0.3% of all cases, respectively. The sex ratio (male/female) of all cases was 1.01 and of DS cases was 1.6. Our results further confirmed that cytogenetic analysis is necessary in terms of making definite diagnosis of genetic disorders, providing proper genetic counseling and clinical treatment, assessing the recurrence risk, and preventing the hereditary genetic diseases and disorders. Besides, such studies will greatly assist in constituting national and international databases or records of genetic disorders.