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

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 I...

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Autores principales:	Saira Irum, Helen Mary Robert, Asad Mahmood, Rafia Mahmood, Ayesha Khurshid, Saleem Ahmed Khan
Formato:	article
Lenguaje:	EN
Publicado:	Army Medical College Rawalpindi 2021
Materias:	down syndrome karyotyping trisomy 21 Medicine R Medicine (General) R5-920
Acceso en línea:	https://doi.org/10.51253/pafmj.v71iSuppl-1.6196 https://doaj.org/article/8336c5f8ad23470cb5e56c95000e0e99
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spelling	oai:doaj.org-article:8336c5f8ad23470cb5e56c95000e0e992021-12-02T17:52:46ZFREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIPhttps://doi.org/10.51253/pafmj.v71iSuppl-1.61960030-96482411-8842https://doaj.org/article/8336c5f8ad23470cb5e56c95000e0e992021-01-01T00:00:00Zhttps://pafmj.org/index.php/PAFMJ/article/view/6196https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Objective: 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.Saira IrumHelen Mary RobertAsad MahmoodRafia MahmoodAyesha KhurshidSaleem Ahmed KhanArmy Medical College Rawalpindiarticledown syndromekaryotypingtrisomy 21MedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 71, Iss SUPPL-1, Pp 28-31 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	down syndrome karyotyping trisomy 21 Medicine R Medicine (General) R5-920
spellingShingle	down syndrome karyotyping trisomy 21 Medicine R Medicine (General) R5-920 Saira Irum Helen Mary Robert Asad Mahmood Rafia Mahmood Ayesha Khurshid Saleem Ahmed Khan FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP
description	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.
format	article
author	Saira Irum Helen Mary Robert Asad Mahmood Rafia Mahmood Ayesha Khurshid Saleem Ahmed Khan
author_facet	Saira Irum Helen Mary Robert Asad Mahmood Rafia Mahmood Ayesha Khurshid Saleem Ahmed Khan
author_sort	Saira Irum
title	FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP
title_short	FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP
title_full	FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP
title_fullStr	FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP
title_full_unstemmed	FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP
title_sort	frequency of clinical features and cytogenetic defects in down syndrome diagnosed at afip
publisher	Army Medical College Rawalpindi
publishDate	2021
url	https://doi.org/10.51253/pafmj.v71iSuppl-1.6196 https://doaj.org/article/8336c5f8ad23470cb5e56c95000e0e99
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_version_	1718379177360490496

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

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