Scholars International Journal of Anatomy and Physiology (SIJAP)
Volume-2 | Issue-03 | 124-127
Original Research Article
The Karyotype Analysis in Cases of Cleft Lip and Cleft Palate
Dr. Brijesh M. Patel, Dr. Bhavin B. Kodiyatar, Dr. Sejal Patel
Published : March 30, 2019
Abstract
Cleft lip and cleft palate are common congenital craniofacial anomalies ranging between 1:600 and 1:1000 live births
respectively. It is a birth defect that occurs due to arrest of development or failure of fusion of components taking part in
the formation of face and palate. Most clefts of the lip and palate result from multiple factors, which includes genetic and
non-genetic causes. Studies of twins and familial incidence indicate the importance genetic factors. The aim of this
chromosomal study is to determine the types of chromosomal abnormalities that play a major role in the causation of
cleft lip and cleft palate and also in subsequent management and carrier detection. The early investigation to detect
genetic abnormality gives better understanding about prognosis of the disease for timely intervention and management
and also risks involved in transmission of abnormality to subsequent generations. For present study 25 clinically
diagnosed cases of cleft lip and cleft palate were selected and their karyotypes were prepared and studied for
chromosomal abnormalities.The numerical chromosomal abnormality was found in the form of Trisomy 21 of Down’s
syndrome in 1 (4%) case and 19 (76%) cases had normal karyotypes and in 5 (20%) cases metaphase were not detected.
It was also found that 6 (24%) cases had associated congenital heart disease and 1 (4%) case was of Down’s syndrome
with Congenital Heart defects.The karyotype study in cases of cleft lip and cleft palate helps to confirm the diagnosis, to
predict severity of the condition and to counsel the families for the recurrence risk with greater accuracy.