A genetic disorder is an illness caused by one or more abnormalities in the genome, especially a condition that is present from birth can be a major cause of prenatal infant death and postnatal physical defects. Present study was conducted to determine the chromosomal abnormality and incidence of congenital malformation. Parents were interviewed with the help of questionnaire. Information gathered included family history behavioral risk factors. Forty five samples were collected with giving informed consent for cytogenetic analysis of congenital malformed infants. Chromosomes were examined after G-banded technique of peripheral lymphocyte culture and abnormality was determined by performing karyotyping. Trisomy 21 was seen in karyotyping of Down syndrome patient. With the recent development in cytogenetics like Fish and CGH detect the micro deletion in chromosome. Affected people typically have no history of the disorder in their family. In gastroschisis the bowel does not function properly but the child rarely has other serious issues.