FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP

  • Saira Irum Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Helen Mary Robert Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Asad Mahmood Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Rafia Mahmood Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Ayesha Khurshid Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Saleem Ahmed Khan Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
Keywords: Down syndrome, Karyotyping, Trisomy 21

Abstract

Objective: To determine the frequency of clinical features and cytogenetic abnormalities in patients of down syndrome and correlation of cytogenetic abnormalities with clinical features.

Study Design: Cross sectional study.

Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from Feb 2017 to Feb 2018.

Methodology: Total 163 patients with clinical suspicion of Down syndrome were selected by non-probability convenient sampling and diagnosis was confirmed by conventional cytogenetic analysis using Giemsa trypsin banding technique. Clinical features were assessed and frequency of different cytogenetic abnormalities were noted.

Results: Out of total 163 patients, 96 (59%) were male and 67 (41%) were female. Median age of the patients was 11 months. Trisomy 21 was detected in 158 (96.9%), Robertsonian translocation in 4 (2.4%) and mosaicism in 01 (0.6%) patient. The predominant clinical features observed were slaunted with eyes, epicanthic folds, depressed nasal bridge and protruding tongue.

Conclusion: Trisomy 21 is the most common cytogenetic abnormality observed in patients of down syndrome.

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Published
2021-01-26
How to Cite
Irum, S., Robert, H., Mahmood, A., Mahmood, R., Khurshid, A., & Khan, S. (2021). FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP. PAFMJ, 71(Suppl-1), S28-31. https://doi.org/10.51253/pafmj.v71iSuppl-1.6196
Section
Original Articles

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