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Cytogenetics Posters

Jumping translocations involving chromosome 14q11 in a newborn of a mother on methadone maintenance
Jumping translocations involving chromosome 14q11 in a newborn of a mother on methadone maintenance. Eve McMorrow
Two further cases of 8p23.1 duplication syndrome
Two further cases of 8p23.1 duplication syndrome. Sophie Laird
An unusual derivative Y chromosome in a female patient with ovarian dysgerminoma
An unusual derivative Y chromosome in a female patient with ovarian dysgerminoma. Emma Jenkins
Detection of mosaicism by array CGH
Detection of mosaicism by array CGH. Sarah Taylor
A complex case resolved using standard cytogenetics and aCGH
A complex case resolved using standard cytogenetics and aCGH. Jennifer Corfield
Improvements in DNA quality for array CGH
Improvements in DNA quality for array CGH. Helen Wykes
Evalution of in-house FISH probes, derived from 1Mb clone set, for the confirmation of microarray findings
Evaluation of "in-house" FISH probes, derived from 1Mb clone set, for the confirmation of microarray findings. Fiona Bergin
An unusual finding in the mother of a prenatally diagnosed Spina Bifida- a case report
An unusual finding in the mother of a prenatally diagnosed Spina Bifida-a case report. Magda Ainscough
Non-invasive prenatal detection of a micro syndrome mutation in a maternal blood sample using SNaPshotTM mini sequencing
Non-invasive prenatal detection of a micro syndrome mutation in a maternal blood sample using SNaPshotTM mini sequencing. Lauren Jones
An unusual derivative Y chromosome identified at prenatal diagnosis
An unusual derivative Y chromosome identified at prenatal diagnosis. Joanne Staines
QFPCR using dissociated chorionic villi sample with discrepant results for trisomy 21 compared with full karyotyoe of long term cultures from the same sample
QFPCR using dissociated chorionic villi sample with discrepant results for trisomy 21 compared with full karyotype of long term cultures from the same sample. Lisa Burvill-Holmes
An interstitial 1q duplication in a 37 week IUD detected by Microarray. A case report
An interstitial 1q duplication in a 37 week IUD detected by Microarray. A case report. George Bakirtzis
Amniotic fluid centrifugation parameters
Amniotic fluid centrifugation parameters. Karen Thompson

Molecular Posters

Next generation sequencing of BRCA1 and BRCA2: One year on
Next generation sequencing of BRCA1 and BRCA2: One year on. Nick Camm
Building a next-generation sequencing pipeline for diagnostics
Building a next-generation sequencing pipeline for diagnostics. Sanjeev Bhaskar
Next generation sequencing in Clinical Genetics with EASIH
Next generation sequencing in Clinical Genetics with EASIH. Anthony Rogers
Implementation of QF-PCR and MLPA analysis for fetal and neonatal pathology samples
Implementation of QF-PCR and MLPA analysis for fetal and neonatal pathology samples. Louise McClelland
MUTYH-associated polyposis: searching for mutations using whole genome sequencing and multiplex ligation-dependent probe amplification (MLPA)
MUTYH-associated polyposis: searching for mutations using whole genome sequencing and multiplex ligation-dependent probe amplification (MLPA). Rachel Dunn
Evalutation of LIPOchip V.10 for autosomal dominant hypercholesterolaemia testing
Evaluation of LIPOchip V.10 for autosomal dominant hypercholesterolaemia testing. Chris Stockdale.
Characterisation of a frequent deletion of the LDLR gene in patients with familial Hypercholesterolaemia
Characterisation of a frequent deletion of the LDLR gene in patients with familial Hypercholesterolaemia. Frances White
A comparison of KRAS mutation detection techniques
A comparison of KRAS muation detection techniques. Zoe Allen
Allele-specific PCR in BRCA2: a method to determine allele parentage and identify possible at risk family members in cases of potential germline mosaicism.
Allele-specific PCR in BRAC2: a method to determine allele parentage and identify possible at risk family members in cases of potential germline mosaicism. Alan Lafferty
Type 3 VWD- a case report of a homozygous partial VWF gene deletion
Type 3 VWD - a case report of a homozygous partial VWF gene deletion. Carolyn Cooper
Screening of MKS1, TMEM67(MKS3) and selected founder mutations detects biallelic mutations in a significant proportion of patient with Meckel Syndrome
Screening of MKS1, TMEM67(MKS3) and selected founder mutations detects biallelic mutations in a significant proportion of patients with Meckel Syndrome. Ian Berry
Ellis-can Creveld Syndrome- a new UKGTN service
Ellis-van Creveld Syndrome - a new UKGTN service. Laura Yarram
A pilot study of families with a high incidence of Acne Inversa (Hidradenitis suppurativa)
A pilot genetic study of families with a high incidence of Acne Inversa (Hidradenitis suppurativa). Michelle Wood
Smith-Lemli-Optiz syndrome: the Bristol experience
Smith-Lemli-Optiz syndrome: the Bristol experience. Julie Honeychurch
Development of a molecular genetic diagnostic service for cartilage hair hypoplasia
Development of a molecular genetic diagnostic service for cartilage hair hypoplasia. Fiona McKay
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