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

QR Code

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...

Full description

Bibliographic Details
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/1857/1/08._45-52_%28MH_005%29.pdf

Similar Items

Molecular Cytogenetics Of Myelodysplastic Syndrome – Hospital Based Study
by: Isa, Asmida
Published: (2014)

Detection of BCR/ABL gene in chronic Myeloid Leukaemia: comparison of Fluorescence in situ Hybridisation (FISH), conventional Cytogenetics and Polymerase Chain Reaction (PCR) techniques
by: Reena RMZ,, et al.
Published: (2006)

Cytogenetic and Molecular Changes in Buccal Cells from Mechanical Workshop Workers
by: Eshkoor, Sima Ataollahi
Published: (2011)

Cytogenetic investigation of the sambar deer, Cervus unicolor equinus
by: Yusoff, Rosnina, et al.
Published: (1999)

Cytogenetic Studies On The Water Buffalo (Bubalus Bubalis)
by: Abdullah, Mohamad Hilmi
Published: (1984)

Hormonal and cytogenetic analyses of reproductive activity of cattle
by: Degu, Nurhusien Yimer
Published: (2011)

Cytogenetic studies on three species of primates in Malaysia
by: Bongso, Tuan Ariffeen, et al.
Published: (1981)

Clinical and cytogenetic profiles of children with autism in Kuantan Pahang
by: Mat Zin, Nora, et al.
Published: (2016)

Application of veterinary cytogenetics in domestic animals: a review
by: Yahaya, Muhammad Sanusi, et al.
Published: (2019)

Establishment of research methods and protocols in cytogenetic laboratory of the Kulliyah of Medicine, IIUM
by: Muhammad, Siti Aeshah @ Naznin
Published: (2009)

Cytogenetic study of some allium species (Subgenus allium and Melanocrommyum) in Iran
by: Hosseini, Shahla, et al.
Published: (2010)

Infantile acute megakaryoblastic leukaemia with T(1:22) in a non-down syndrome child.
by: Nurasyikin Y,, et al.
Published: (2012)

Trends in diagnosis of Rett Syndrome in Australia
by: Fehr, S., et al.
Published: (2011)

Trisomy X and myelodysplastic syndrome (MDS) with eosinophilia
by: Mohd Tohit, Eusni Rahayu, et al.
Published: (2012)

The Msi2 protein expression positive correlation with favorable cytogenetics findings in AML
by: Bakheet, Omayma Saad Eldeen, et al.
Published: (2017)

New cytogenetic information on some Allium species (Sect. Allium and Melanocrommyum) of Iran
by: Hosseini, Shahla
Published: (2009)

Turner syndrome with ring x chromosome: do they have a distinct phenotype?
by: Lee, Yee Ling, et al.
Published: (2018)

The development of wheat/Thinopyrum elongatum lines produced via a whole genome shotgun approach and characterisation via cytogenetics and molecular marker analysis
by: Baker, Lauren
Published: (2018)

Cytogenetic and Random Amplified Polymorphism Dna Analysis of Subspecies of Asian Elephants (Elephas Maximus)
by: Sharudin, Samsul Bariah
Published: (2005)

Identification of Y chromosomal material in turner syndrome by Fluorescence in Situ Hybridisation (FISH)
by: Reena Rahayu Md Zin,, et al.
Published: (2008)

The diagnosis of autism in a female: could it be Rett syndrome?
by: Young, Deirdra, et al.
Published: (2008)

Case of rapunzel syndrome: With a review of diagnosis and treatment
by: Reid, Christopher, et al.
Published: (2012)

The diagnosis of autism in a female: could it be Rett syndrome?
by: Young, Deirdra, et al.
Published: (2008)

Cytogenetic Studies of Malayan Gaur (Bos Gaurus Hubbacki), Sahiwal-Friesian Cattle and Their Hybrid Backcrosses
by: Kamalludin, Mamat Hamidi
Published: (2009)

Polymerase chain reaction analysis as a rapid screening test for diagnosis of fragile X syndrome
by: Phan CL,, et al.
Published: (2006)

Diagnosis of Dengue Infection Using Conventional and Biosensor Based Techniques
by: Parkash, Om, et al.
Published: (2015)

Application of PCR-ELISA in molecular diagnosis
by: Sue, Mei Jean, et al.
Published: (2014)

A rare case of a male infant with down-turner syndrome and review of cases
by: Salwati Shuib,, et al.
Published: (2019)

The Influence of Transformational Leadership Styles on Knowledge Management: The Moderating Role of Organizational Structure Among Administrators
by: Zarina, Zainal Abidin
Published: (2012)

Non-conventional interactions in molecular crystals
by: Tiekink, Edward R. T. *
Published: (2017)

Nardilysin: A potential biomarker for the early diagnosis of acute coronary syndrome
by: Stephenson, A., et al.
Published: (2019)

Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome
by: Fehr, S., et al.
Published: (2011)

Cri-du-chat syndrome: application of array CGH in diagnostic evaluation
by: Zarina AL,, et al.
Published: (2010)

The diagnosis of diabetic retinopathy by means of transfer learning with conventional machine learning pipeline
by: Farhan Nabil, Mohd Noor, et al.
Published: (2020)

A Breakthrough In NPC Diagnosis - From Conventional Biopsy to EBV AMP Kit.
by: Hassan, Shahid
Published: (2004)

Evaluation of the conventional test methods for diagnosis of methicillin-resistant staphylococcus aureus (MRSA)
by: Lee Hui, Hua
Published: (2008)

The prognostic impact of CD7 expression of leukaemic blasts in de novo intermediate cytogenetic risk acute myeloid leukaemia.
by: Kesavan, M., et al.
Published: (2016)

Determination of the chromosome number and genome size of Garcinia mangostana L. via cytogenetics, flow cytometry and k-mer analyses
by: Midin, Mohd Razik, et al.
Published: (2018)

Clinical, ultrasound and biochemical features of polycystic ovary syndrome in adolescents: Implications for diagnosis
by: Hickey, M., et al.
Published: (2011)

Plasma biomarkers in the prediction and diagnosis of tuberculosis-associated immune reconstitution inflammatory syndrome
by: French, M., et al.
Published: (2011)