Scholars International Journal of Anatomy and Physiology (SIJAP)
Volume-7 | Issue-05 | 65-69
Original Research Article
Karyotyping to Assess Structural and Numerical Chromosomal Anomalies in Children with Anorectal Malformations
Sameer P. A, Dr. Priya Ranganath
Published : July 13, 2024
Abstract
Anorectal malformations are one of the common congenital anomalies with an incidence of 1-3000 to 5000. Up to 70% of the patients have associated anomalies. Forty to seventy percent of ARM patients have one or more additional defects of other organ systems. The etiology of ARM is multifactorial, it includes both genetic and environmental. This study was done to determine the structural and numerical chromosomal associated with anorectal malformations. 150 patients were included in the study. A full physical examination of the child was conducted followed by an infantogram, echocardiogram, and spinal ultrasound scan was done to investigate different associated anomalies. The patients were classified according to the Krickenbeck classification. Karyotyping was done to determine the structural and numerical chromosomal anomalies. ARM with perineal fistula was the common type of ARM. Out of 150 karyotypes done, only two patients had abnormal karyotypes. Both patients had Downs syndrome. Consanguinity was found in 22% of the cases. Karyotyping plays a vital role in the comprehensive evaluation of patients with anorectal malformations by identifying chromosomal abnormalities, guiding management decisions, providing prognostic information, and enabling genetic counseling.