Louise Korte1, Sarah Higgins1, Jillian Nicholl1, Alison Attwood1, Ryan Storer1, Sarah Smith1, Yvonne Hull1, Sue Brown1, Rhonda Hutchinson1, Christopher Barnett2, Jan Liebelt2 1SA Pathology, Cytogenetics Unit, Department of Genetic Medicine, WCH, 72 King William Road, North Adelaide, SA, 5006 2SA...
- February 15, 2017
Ruth N MacKinnon1,2, Hendrika M Duivenvoorden3, Lynda J Campbell1,2 Meaghan Wall1,2,4 1 Victorian Cancer Cytogenetics Service, PO Box 2900, Fitzroy, Vic 3065 2 Department of Medicine (St Vincent’s), University of Mebourne, Fitzroy, Vic 3065 3 Department of Biochemistry and Genetics,...
- February 15, 2017
Vanessa McLaughlin1, Paula Lall1, Louise Hills1, Sorour Voghoei1, Dao Nguyen1, Michael Cronin1, Amber Boys1, Fiona Norris1, David Francis1, Martin Delatycki1 1VCGS, Level 4 MCRI Building, Royal Children’s Hospital, Flemington Rd, Parkville, 3052 Microarray analysis and FISH testing were requested on...
- February 15, 2017
Holly Napret, Dean Grimmond, Artur Darmanian and Dale Wright 1Sydney Genome Diagnostics, The Children’s Hospital at Westmead, Hawkesbury Rd, Westmead NSW 2145 Background: The 22q11.2 region is complex with well-defined segmental duplications, or low copy repeats (LCR), which predispose...
- February 15, 2017
Jennifer Ong1, Con Ngo1, Shubha Srinivasan2, Komal Vora2, Meredith Wilson3, Dale Wright1 1 Department of Cytogenetics, The Children’s Hospital at Westmead, Corner Hawkesbury Road Hainsworth Street, Westmead, NSW, 2145. 2 Department of Endocrinology and Diabetes, The Children’s Hospital at Westmead,...
- February 15, 2017
Rebecca Reid1, Jodie Fitness 1, Emmie Pushkareff 1, Redmond Orth 1, Aynsley Bryce 1, Nick Hovey 1, Dr Melody Caramins 2, Dr Nicole Chia1 1 Queensland Medical Laboraory, Metroplex on Gateway, 11 Riverview Pl, Murarrie, QLD, 4172 2 Genomic Diagnostics,...
- February 15, 2017
Melinda Richter1, Nicole Martin1, Peter Field1 1 Virtus Diagnostics – QFG Genetics, Level 1 Boundary Court, 55 Little Edward Street, Brisbane, QLD, 4000 Cystic Fibrosis is the most common severe autosomal recessive disease in those individuals with Northern European...
- February 15, 2017
Monica Runiewicz Introduction: Cystic fibrosis is an autosomal recessive chloride ion channelopathy causing disruption of exocrine function of the pancreas, intestinal glands, biliary tree, bronchial glands and sweat glands. Pre-conception carrier screening for cystic fibrosis is common. The molecular...
- February 15, 2017
Louisa Sanchez 1, Evelyn Douglas1, Linda Burrows1, Kathy Cox1, Maely Gauthier2, Karin Kassahn2, Sam Crafter3, Lesley McGregor4, Chris Barnett4, Kathie Friend1. 1 Molecular Genetics Unit, SA Pathology, North Adelaide, South Australia 2 Technology Advancement Unit, SA Pathology, Adelaide, South Australia...
- February 15, 2017
Priscillia Siswara1, Nadine Taubenheim1, Elizabeth M. Algar1,2 1 Genetics and Molecular Pathology Laboratory, Monash Health, 246 Clayton Road, Victoria, 3168 2 Hudson Institute of Medical Research, 27-31 Wright Street, Victoria, 3168 Disorders of genomic imprinting are rare developmental disorders...
- February 15, 2017
