CLINICAL AND KARYOTYPIC PROFILE OF CHILDREN WITH DYSMORPHOLOGY

Journal Title: Journal of Evolution of Medical and Dental Sciences - Year 2019, Vol 8, Issue 4

Abstract

BACKGROUND Chromosomal anomalies occur in 0.4% live births. The phenotypic anomalies that result from chromosomal aberrations have multiple minor face and limb anomalies which are usual associations. These assume diagnostic significance in combination. Major congenital defects can be defined rather arbitrarily as those abnormalities, if uncorrected, impair normal body function or reduce life expectancy. Most babies with two major anomalies or one major and two minor anomalies or three or more minor anomalies have a dysmorphic syndrome. The objectives of this study were- 1. to analyse the clinical and karyotypic profile of a section of dysmorphic children attending OPD and IP of the Department of Paediatrics, SATH, TVM Medical College and 2. to correlate the dysmorphology with the results of karyotyping. Setting- Department of Paediatrics, SATH, Government Medical College, Thiruvananthapuram, Kerala. Design- Descriptive study. MATERIALS AND METHODS Children who were enrolled were evaluated using a detailed proforma to analyse the clinical profile. Then 2-4 ml of venous blood was collected in sodium heparinised vacutainer with aseptic precautions and sent for karyotyping. Subjects- 53 children referred with multiple anomalies, failure to thrive, dysmorphic facies, abnormal dermatoglyphics and other major and minor anomalies were included in the study. Statistical Analysis- The data was collected, compiled and analysed using Microsoft Excel percentages. RESULTS Of the 53 dysmorphic children screened, 73.58% had abnormal karyotype. This included numerical autosomal anomalies (50.9%), numerical sex chromosomal anomalies (3.77%), structural autosomal chromosomal anomalies (7.54%) or structural sex chromosomal anomalies (3.77%). There were 3 cases of Fanconi’s anaemia and a case of fragile X syndrome in the sample. CONCLUSION Among the 53 children, 73.58% had an abnormal karyotype. Those with two major anomalies or one major and two minor anomalies or three minor anomalies were included in the study. One major anomaly may not be indicative of a chromosomal anomaly whereas association of various major and minor anomalies may indicate a chromosomal defect. As karyotyping and further studies to detect chromosomal anomalies are expensive, selection of cases was based on inclusion criteria yields a high positivity rate.

Authors and Affiliations

Nisha Narendran, Manoj Ravi, Rajany Jose

Keywords

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  • EP ID EP553781
  • DOI 10.14260/jemds/2019/54
  • Views 86
  • Downloads 0

How To Cite

Nisha Narendran, Manoj Ravi, Rajany Jose (2019). CLINICAL AND KARYOTYPIC PROFILE OF CHILDREN WITH DYSMORPHOLOGY. Journal of Evolution of Medical and Dental Sciences, 8(4), 248-253. https://europub.co.uk/articles/-A-553781