| Summary: | Introduction: Chromosomal abnormalities are a major etiology of
intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for
chromosomal aberrations by clinical diagnostic techniques has been primarily performed through
standard karyotyping. Methods: A cytogenetic study involving 1730 individuals with ID and/or
MCA was conducted using lymphocyte culture and high-resolution G-banding method. Results:
Various types of chromosomal abnormalities were detected in 440 patients (25.5%). Numerical
and structural chromosomal abnormalities, respectively, were observed in 63.3% (278 out of
440) and 36.7% (162 out of 440) patients. Among the chromosomal abnormalities, sexual
chromosomal abnormalities were found in some cases, and Klinefelter syndrome with 2.5%
frequency was the most frequent sex chromosomal abnormality. Autosomal abnormalities were
found in cases, and Down syndrome was the most frequent autosomal chromosomal abnormality
occurring in 41.0% of detected abnormalities. Conclusion: The higher contribution of
chromosome aberrations in the northwest of Iran indicates the importance of cytogenetic
evaluation in the etiology of MCA and/or ID patients. Genetic counseling was provided to the
family members to explain the recurrence risk as well as the need for prenatal diagnosis in
subsequent pregnancies and management of patients by collected data bank.
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