Chromosome disorders

Project Details

Chromosome disorders are a significant cause of mortality and morbidity in humans.  This study focuses on clinical aspects of chromosome disorders including the origins and consequences of chromosome pathology, detection of chromosome disorders at prenatal diagnosis, chromosome translocations and uniparental disomy.  In collaboration with the VCGS cytogenetics laboratory, we are interested in the natural history and genotype-phenotype correlation of copy number variants.


We collaborate with a range of different groups including those from the Royal Children's Hospital Melbourne, Murdoch Childrens Research Institute, University of Melbourne.  Our principle local collaborators are A/Prof Paul Lockhart, Professor Martin Delatycki and Dr Rick Leventer (Accelerated Gene Identification Program), A/Prof Melanie Bahlo (bioinformatics lead for the AGIP Program), Prof Jane Halliday (IVF studies and epidemiology), Dr David Godler (epigenetics and Fragile X), Prof Katrina Williams (Autism research), Prof Dinah Reddihough (cerebral palsy research), A/Prof Angela Morgan (Genetics of speech and language disorders).


We are funded through NHMRC and various philanthropic organisations.

Research Outcomes

  • Amor DJ, Choo KH (2002) Neocentromeres: role in human disease, evolution, and centromere study. Am J Hum Genet 71:695-714
  • Amor DJ, Bentley K, Ryan J, Perry J, Wong L, Slater H, Choo KH (2004) Human centromere repositioning "in progress". Proc Natl Acad Sci U S A 101:6542-6547
  • Amor DJ, Kalitsis P, Sumer H, Andy Choo KHA (2004) Building the centromere: from foundation proteins to 3D organization. Trends Cell Biol 14:359-368
  • Irvine DV, Amor DJ, Perry J, Sirvent N, Pedeutour F, Choo KH, Saffery R (2004) Chromosome size and origin as determinants of the level of CENP-A incorporation into human centromeres. Chromosome Res 12:805-815
  • Amor DJ, Voullaire L, Bentley K, Savarirayan R, Choo KH (2005) Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3. Am J Med Genet A 133:151-157
  • Amor DJ, Neo WT, Waters E, Heussler H, Pertile M, Halliday J (2006) Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism. Prenat Diagn 26:443-448
  • Yeung A, Francis D, Giouzzepos O, Amor DJ (2009) Pallister-Killian Syndrome Caused by Mosaicism for a Supernumerary Ring Chromosome 12p. Am J Med Genet A 149A:505-9
  • Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner MRJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR (2009) Detection of Cryptic Pathogenic Copy Number Variations and Constitutional Loss of Heterozygosity using High Resolution SNP Microarray Analysis in 117 Patients Referred for Cytogenetic Analysis and Impact on Clinical Practice. J Med Genet 6:123-131.
  • Bijlsma EK, Gijsbers ACJ,  Hoeijmakers JHM, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Verhelst H, Menten B, Oostra A, Amor DJ, Bruno D, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MCJ, Pfundt R, Breuning MH, Ruivenkamp CAL. (2009) Extending the phenotype of recurrent rearrangements of 16p11.2: deletions found in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 52:77-87
  • Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgstrom B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J (2010) Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 47:299-311
  • Traylor RN, Bruno DL, Burgess T, Wildin R, Spencer A, Ganesamoorthy D, Amor DJ, Hunter M, Caplan M, Rosenfeld JA, Theisen A, Torchia BS, Shaffer LG, Ballif BC, Slater HR (2010) A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. PLOS One 5:e12462
  • Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater H, Farlie PG, Amor DJ (2011) Phenotypic Variability of Distal 22q11.2 Copy Number Abnormalities. Am J Med Genet 155:1623-33
  • Bruno D, Stark Z, Amor DJ, Burgess T, Butler K, Corrie S, Francis D, Ganesamoorthy D, James P, O’Rielly D, Oertel R, Savariryan R, Krishnamurthy P, Salce N, Slater HR (2011). Extending the Scope of Diagnostic Chromosome Analysis: Detection of Single Gene Defects using High Resolution SNP Microarrays. Human Mutation 32:1500-6.
  • Bruno DL, White S, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Krishnamurthy P, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR (2011) Pathogenic Aberrations Revealed Exclusively by SNP-Genotyping Data in 5,000 Samples Tested by Molecular Karyotyping. J Med Genet 48:831-9
  • Mefford HC, Rosenfeld JA, Shur N, Slavotinek A, Cox VA, Hennekam R, Firth H, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal M, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE. (2012) Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet 49:110-118
  • Ganesamoorthy D, Bruno DL, McGillivray G, Norris F, White SM, Adroub S, Amor DJ, Yeung A, Oertel R, Pertile MD, Ngo C, Arvaj AR, Walker S, Charan P, Palma-Dias R, Woodrow N, Slater HR. (2013) Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?  BJOG 120:594-606
  • Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, Tepperberg JH, Papenhausen P, Tan TY, Andrieux J, Plessis G, Amor DJ, Keitges EA (2013). Clinical Comparison of Overlapping Deletions of 19p13.3. Am J Med Genet A 161:1110-6
  • Sinnerbrink IB, Sherwen A, Meiser B, Halliday J, Amor DJ, Waters E, Rea F, Evans E, Rahman B, Kirk EP (2013) Long term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement. Prenat Diagn 33:831-8
  • Hewitt JK, Jayasinghe Y, Amor DJ, Gillam LH, Warne GL, Grover S, Zacharin MR (2013) Fertility in Turner Syndrome. Clinical Endocrinology 79:606-14
  • McGillivray G, Bruno D, Slater H, Amor DJ. (2013) Authors' response to: Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants. BJOG 120:1297
  • Bourke E, Snow P, Herlihy A, Amor D, Metcalfe SA (2014) Qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis. Eur J Hum Genet 22:18-24

Research Group

Murdoch Children’s Research Institute Genetics of Neurodisability

Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine, Neuroscience & Psychiatry

Key Contact

For further information about this research, please contact the research group leader.

Department / Centre


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