Cytogenetic analysis of children with congenital dysmorphism reported to tertiary care hospital in Lahore, Pakistan
Journal Title: Journal of Fatima Jinnah Medical University Lahore - Year 2018, Vol 12, Issue 1
Abstract
Background: The chromosomal imbalances are often seen in association with congenital dysmorphism. The identification of such chromosomal abnormalities is important, both as regards clinical management and for accurate genetic counselling. The current study sought to determine the association of chromosomal abnormalities to different groups of dysmorphisms. Methods: This one-year descriptive cross-sectional study was conducted at The Children’s Hospital and the Institute of Child Health, Lahore. Total 100 children between the age of 1 day to 12 years, reported with congenital dysmorphism were included in this study. Physical examination of the patients was carried out to note down their dysmorphic features. The blood samples of these children were taken to culture cells for chromosomal analysis by the G-banding method. Results: Physical examination of the 92 patients revealed isolated dysmorphism in 14% and multiple dysmorphisms in 86% of the cases. Chromosomal abnormalities were found in 23.9% of the total patients. Among them, 7.7% with isolated and 26.5% cases with multiple malformations had chromosomal abnormalities. Conclusion: This study concluded that both isolated and multiple congenital dysmorphisms are significantly associated with chromosomal abnormalities, therefore, chromosome analysis should be part of initial investigations of all the dysmorphic children.
Authors and Affiliations
Ruqyya Khalid, Saqib Mahmood, Faiz Ahmed Raza, Khawaja A Irfan Waheed
Keywords
Related Articles
- EP ID EP356864
- DOI -
- Views 130
- Downloads 0
Beneficial Effect of Empowering the Local Community in Disaster Management and Rehabilitation
Background: Disasters still pose a great threat around the globe. Communities and people can more effectively respond to emergencies and crises with their increased access to basic resources and social services, through...
Dynamic Contrast Enhanced Breast MRI in Diagnosis of Breast Carcinoma: Comparison between the Accuracy of Kinetic Curves and Morphological Features
Background: Breast carcinoma being the commonest and frequently a lethal female malignancy needs prompt radiological evaluation for proper characterization. MRI breast is highly sensitive for diagnosis and uses two featu...
Coblation tonsillectomy versus cold dissection tonsillectomy
Background: Post-tonsillectomy pain and haemorrhage are important factors for the safety and efficacy of any surgical procedure. This study aimed to compare the efficacy of two surgical techniques i.e. coblator assisted...
Socio-demographic and Reproductive Factors Affecting Utilization of Postnatal Services among Women in District Rahim Yar Khan
Background: Postnatal care is provided to the mother and newborn immediately after birth up to six weeks. Proper utilization of the postnatal care can substantially reduce the morbidity and mortality of both mother and t...
Incidental extra-cardiac pathologies on cardiac computed tomography
Background: Extracardiac pathologies are frequently present in cardiac CT but are not routinely commented upon, and sometimes may have serious medical concern. This study aims to identify extracardiac pathologies present...