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

Authors

  • 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

DOI:

https://doi.org/10.51253/pafmj.v71iSuppl-1.6196

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

26-01-2021

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Original Articles

How to Cite

1.
Irum S, Robert HM, Mahmood A, Mahmood R, Khurshid A, Khan SA. FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP. Pak Armed Forces Med J [Internet]. 2021 Jan. 26 [cited 2024 Oct. 4];71(Suppl-1):S28-31. Available from: https://pafmj.org/PAFMJ/article/view/6196