Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Dec 1;13(2):99-105.
doi: 10.1055/s-0042-1758872. eCollection 2024 Jun.

A Cytogenetic Study of Turkish Children with Global Developmental Delay

Osman Demirhan  1 , Özlem Hergüner  2 , Erdal Tunç  1
Affiliations

A Cytogenetic Study of Turkish Children with Global Developmental Delay

Osman Demirhan et al. J Pediatr Genet. .

Abstract

Global developmental delay (GDD)/intellectual disability (ID) is common in children and its etiology is unknown in many cases. Chromosomal abnormalities are predominant genetic causes of GDD/ID. The aim of this study is to determine the genetic risk factors that may be involved in the etiology of GDD/ID. In this study, 810 children with moderate to severe, clinically unexplained GDD/ID for whom cytogenetic analysis were performed were retrospectively rescreened. The results showed that GDD/ID affected more females than males (2 girls:1 boy). A total of 54 children (6.7%) with GDD showed chromosomal aberrations (CAs): 59.3% of these CAs were structural aberrations, and the rest were numerical aberrations (40.7%). Specifically, inversions, deletions, and reciprocal and robertsonian translocations, which were detected in 1, 0.7, 0.8, and 0.4% of the children, respectively, constituted important categories of structural CAs. Among numerical CAs, classic Turner and mosaics were detected in 1.2% of all children. Trisomy 21 and mosaic trisomy 21 were detected in 1% of the children. Marker chromosomes and 47,XXY karyotypes were found in two children each. Our results suggest that female sex is more affected by CAs among GDD/ID cases, and cytogenetic analysis is useful in the etiological diagnosis of GDD/ID.

Keywords: cytogenetic analysis; genetic abnormalities; global developmental delay.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest None declared.

References

    1. Shevell M I, Majnemer A, Rosenbaum P, Abrahamowicz M. Etiologic yield of subspecialists' evaluation of young children with global developmental delay. J Pediatr. 2000;136(05):593–598. - PubMed
    1. Bélanger S A, Caron J. Evaluation of the child with global developmental delay and intellectual disability. Paediatr Child Health. 2018;23(06):403–419. - PMC - PubMed
    1. Yeargin-Allsopp M, Murphy C C, Cordero J F, Decouflé P, Hollowell J G. Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987. Dev Med Child Neurol. 1997;39(03):142–149. - PubMed
    1. Grayton H M, Fernandes C, Rujescu D, Collier D A. Copy number variations in neurodevelopmental disorders. Prog Neurobiol. 2012;99(01):81–91. - PubMed
    1. Majnemer A, Shevell M I. Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr. 1995;127(02):193–199. - PubMed