Spring Conference
Presentations 2008

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SESSION 1 WORKING EFFECTIVELY IN THE NHS

Benefits of being a Foundation Trust

Peter Herring, Chief Executive, Countess of Chester NHS Foundation Trust

Managing Lean Organisations

David Fillingham, Chief Executive, Bolton NHS Trust

Transformers: Cytogeneticists in Disguise

Lucy Platts, GOS

Evaluation and Implementation of Machine-assisted Slide Processing

Charlotte Gregory *  Edinburgh

Validation of the Hanabi-PIII Robotic Metaphase Cell Harvester

Juliana Groisman  Guy’s

SESSION 2 ONCOLOGY 1

FISH and CHIPS in CLL

Angela Douglas  Liverpool Women's Hospital NHS Foundation Trust

Treatment of poor prognosis CLL

Professor Andrew Pettit, Royal Liverpool University Hospital NHS Trust

Immunostimulatory oligonucleotide-induced metaphase cytogenetics for improved detection of chromosomal abnormalities in CLL

David Bohanna *  Birmingham

Advances in genetics of CML

Guy Lucas, Manchester Royal Infirmary.

Acute Myeloid Leukaemia with t(7;21)(p22;q22): A new recurrent semi-cryptic RUNX1 rearrangement

Mark Sales, Dundee

To propose a reliable means of identifying plasma cells (PCs) from haematological bone marrow smears (BMSs) prior to fluorescent in situ hybridisation (FISH) studies for patients referred for multiple myeloma (MM).

Layla Nadine Al-Bustani * Nottingham

Development of concurrent plasma cell FISH and immuno-fluorescent staining for use in the diagnosis of multiple myeloma

Dave Wallace * Manchester

SESSION 3 ONCOLOGY 2

Contribution of genetic analysis to diagnosis and prognosis in Uveal Melanoma

Professor Bertil Damato Royal Liverpool University Hospital NHS Trust

Extending FISH analysis of Paediatric Tumours   ACC Trainee presentation prize winner - 2nd place

Rachel Newby *Newcastle-upon-Tyne

Detection of human telomerase gene (TERC) amplification in cervical cancer: An Update

Renata E Crookes  Sheffield

The use of M-FISH to investigate genome instability in cells exposed to orthopaedic implant wear debris

Martin Figgitt  Bristol

Exploration of HER-2 gene status by MLPA in patients with aberrant HER-2 FISH patterns

Lesley M McMahon * Dundee

SESSION 4 CONSTITUTIONAL / ARRAYS 1

Whole genome analyses: opportunities and challenges arising from new and emerging technologies.

Dr John Crolla  Wessex Regional Genetics Laboratory, Salisbury District General Hospital

The use of array-CGH to characterise de novo chromosome rearrangements in two prenatal cases

Frederiki Magouta  Salisbury

Evaluation of technologies for detection and quantification of foetal DNA in maternal plasma in a clinical setting (ACC Research Fund Award)

Kalliroi Stergianou  Nottingham

Unsuspected sub-microscopic imbalances associated with cytogenetically visible rearrangements revealed by oligonucleotide array CGH technology

Investigation of patients with apparently balanced chromosome rearrangements and an abnormal phenotype using array CGH

Identification of microdeletions in G-dark bands in two patients with developmental delay using array CGH

Screening X-linked mental retardation patients using exon resolution arrays (ACC Research Fund Award)

SESSION 5 CONSTITUTIONAL / ARRAYS 2

Advances in Technology – Opportunity or Threat?

New microdeletion syndromes

Using FISH and microsatellite markers to define the common deleted region in 4 patients with 22q deletions and phenotypic features of lymphoedema  ACC Trainee pres.  prize winner - 1st place

Unbalanced de novo (X;11) translocation in a girl with seizures

Novel euchromatic variants, a ring and a translocation breakpoint are derived from pericentromeric segmental duplications of chromosome 9

Characterisation of an interstitial deletion of chromosome 19q

Incidence of additional abnormalities found in conjunction with common trisomies: an Irish perspective

The use of multiple ligation-dependent probe amplification to detect duplications of MECP2 in males with mental retardation and suspected Rett syndrome

SESSION 6 ARRAYS

How much variation is too much variation?

Optimisation and investigation of a robust array CGH protocol for use diagnostically in the West of Scotland     ACC Trainee presentation prize winner - 3rd place

Comparison of different array comparative genomic hybridisation (array CGH) platforms:investigation of a patient with a clinical presentation suggestive of a chromosomal imbalance and an apparently normal karyotype

Results of assessment and validation of 1Mb BAC arrays, including cases with known abnormal regions and follow-up of single clone results

SESSION 1

Auditing of antenatal diagnosis - what is good practice

UK audit of biallelic abnormal PCR results in Chorionic Villus samples

QF-PCR stand alone prenatal diagnosis: the initial London experience

Development of a diagnostic test for mutations in NPM1 exon 12 in Cytogenetically normal acute myeloid leukaemia patients

The introduction of ABL kinase domain mutation testing in CML patients showing resistance to Imatinib

Duplication of the MECP2 gene region and severe mental retardation in males

SESSION 2

National Genetics Reference Laboratories (NGRL) update

Associated Genetic Technologists Committee (AGTC): Registration update

Microarray user group meeting

New sequencing technologies

SESSION 3

Dr Nigel Carter   Sanger Centre Cambridge

SESSION 4

Transmitted imbalances without phenotypic effect: new examples detected with oligonucleotide array CGH (oaCGH)

Discrepant Cytogenetic, MLPA and array CGH results on a der(X)(pter>q27.2::p22.31>pter): the advantages of an integrated approach

The development of SYBR green qPCR to confirm small SNP array aberrations

Eurogentest: activites in quality management and accreditation of genetic testing services

The ORPHANET database: a free online tool for Molecular Geneticists and Cytogeneticists