The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes

In this report we demonstrate the role of fluorescence in situ hybridisation (FISH) and conventional cytogenetic methods in clinically and cytogenetically confirmed cases of microdeletion syndromes. A total of nine cases were referred to the Cytopathology and Cytogenetic Unit, Hospital Universiti Ke...

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Main Authors:	Salwati Shuib, Sharifah Noor Akmal, Zarina Abdul Latif, Zubaidah Zakaria, Nor Zarina Zainal Abidin
Format:	Article
Language:	English
Published:	Penerbit UKM 2006
Online Access:	http://journalarticle.ukm.my/1857/ http://journalarticle.ukm.my/1857/ http://journalarticle.ukm.my/1857/1/08._45-52_%28MH_005%29.pdf

id	ukm-1857
recordtype	eprints
spelling	ukm-18572016-12-14T06:30:21Z http://journalarticle.ukm.my/1857/ The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes Salwati Shuib, Sharifah Noor Akmal, Zarina Abdul Latif, Zubaidah Zakaria, Nor Zarina Zainal Abidin, In this report we demonstrate the role of fluorescence in situ hybridisation (FISH) and conventional cytogenetic methods in clinically and cytogenetically confirmed cases of microdeletion syndromes. A total of nine cases were referred to the Cytopathology and Cytogenetic Unit, Hospital Universiti Kebangsaan Malaysia (HUKM) from 2002 to 2004. They include three Prader-Willi syndrome, three DiGeorge syndrome, one Williams syndrome, one Miller-Dieker syndrome and one Kallmann syndrome. Blood samples from the patients were cultured and harvested following standard procedures. Twenty metaphases were analysed for each of the cases. FISH analysis was carried out for all the cases using commercial probes (Vysis, USA): SNRPN and D15S10 for Prader-Willi syndrome, LIS1 for Miller Dieker syndrome, ELN for Williams syndrome, KAL for Kallmann syndrome, TUPLE 1 and D22S75 for DiGeorge syndrome. Conventional cytogenetic analysis revealed normal karyotypes in all but one case with structural abnormality involving chromosomes 9 and 22. FISH analysis showed microdeletions in all of the nine cases studied. This study has accomplished two important findings ie. while the FISH method is mandatory in ruling out microdeletion syndromes, conventional cytogenetics acts as a screening tool in revealing other chromosomal abnormalities that may be involved with the disease Penerbit UKM 2006 Article PeerReviewed application/pdf en http://journalarticle.ukm.my/1857/1/08._45-52_%28MH_005%29.pdf Salwati Shuib, and Sharifah Noor Akmal, and Zarina Abdul Latif, and Zubaidah Zakaria, and Nor Zarina Zainal Abidin, (2006) The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes. Medicine & Health, 1 (1). http://www.ppukm.ukm.my/ukmmcjournal/index.php
repository_type	Digital Repository
institution_category	Local University
institution	Universiti Kebangasaan Malaysia
building	UKM Institutional Repository
collection	Online Access
language	English
description	In this report we demonstrate the role of fluorescence in situ hybridisation (FISH) and conventional cytogenetic methods in clinically and cytogenetically confirmed cases of microdeletion syndromes. A total of nine cases were referred to the Cytopathology and Cytogenetic Unit, Hospital Universiti Kebangsaan Malaysia (HUKM) from 2002 to 2004. They include three Prader-Willi syndrome, three DiGeorge syndrome, one Williams syndrome, one Miller-Dieker syndrome and one Kallmann syndrome. Blood samples from the patients were cultured and harvested following standard procedures. Twenty metaphases were analysed for each of the cases. FISH analysis was carried out for all the cases using commercial probes (Vysis, USA): SNRPN and D15S10 for Prader-Willi syndrome, LIS1 for Miller Dieker syndrome, ELN for Williams syndrome, KAL for Kallmann syndrome, TUPLE 1 and D22S75 for DiGeorge syndrome. Conventional cytogenetic analysis revealed normal karyotypes in all but one case with structural abnormality involving chromosomes 9 and 22. FISH analysis showed microdeletions in all of the nine cases studied. This study has accomplished two important findings ie. while the FISH method is mandatory in ruling out microdeletion syndromes, conventional cytogenetics acts as a screening tool in revealing other chromosomal abnormalities that may be involved with the disease
format	Article
author	Salwati Shuib, Sharifah Noor Akmal, Zarina Abdul Latif, Zubaidah Zakaria, Nor Zarina Zainal Abidin,
spellingShingle	Salwati Shuib, Sharifah Noor Akmal, Zarina Abdul Latif, Zubaidah Zakaria, Nor Zarina Zainal Abidin, The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes
author_facet	Salwati Shuib, Sharifah Noor Akmal, Zarina Abdul Latif, Zubaidah Zakaria, Nor Zarina Zainal Abidin,
author_sort	Salwati Shuib,
title	The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes
title_short	The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes
title_full	The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes
title_fullStr	The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes
title_full_unstemmed	The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes
title_sort	role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes
publisher	Penerbit UKM
publishDate	2006
url	http://journalarticle.ukm.my/1857/ http://journalarticle.ukm.my/1857/ http://journalarticle.ukm.my/1857/1/08._45-52_%28MH_005%29.pdf
first_indexed	2023-09-18T19:34:31Z
last_indexed	2023-09-18T19:34:31Z
_version_	1777405181554589696

The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes

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