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Cytogenomics research

Research Center
Research Area


Dott. Maria Clara Bonaglia
Research biologist; Head of Cytogenetic and Cytogenomic Unit of Genetic Laboratory; Research Unit coordinator
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Dott. Roberto Giorda
Molecular biologist, researcher

Dott.ssa Giulietta Gottardi
Lab technician

Dott.ssa Sara Bertuzzo
Biologist, genetician


+39 031 877913, FAX +39 031 877499



Our main interest has always been to identify  the molecular causes of rare chromosome  rearrangements in patients with neurodevelopmental disorders, with emphasis on the Phelan-McDermid Syndrome (also known as 22q13.3 deletion Syndrome), and conducting genotype/phenotype correlations.

The most recent activity relates to the detection of genomic variations  for neurodevelopmental disorders  by the use of state-of-the-art high resolution molecular techniques (genomic array and next generation sequencing) and implementing these techniques in routine diagnostics. This approach provides an opportunity to obtain new insights on molecular mechanisms underlying chromosomal instability and to highlight any possible genomic signature favoring their occurrence.

Selected Publications

See all papers by MC Bonaglia in PubMed:



  • Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O. Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. Clin Genet. 2017 May 30. doi: 10.1111/cge.13060.
  • Bonaglia MC, Zanotta N, Giorda R, D'Angelo G, Zucca C. Long-term follow-up of  a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015 Nov 14;8:89. doi: 10.1186/s13039-015-0193-9.
  • Beri S, Bonaglia MC, Giorda R. Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements. Eur J Hum Genet. 2013 Jul;21(7):757-61. doi: 10.1038/ejhg.2012.235.
  • Bonaglia MC, Giorda R, Beri S, De Agostini C, […] Anderlid BM, Zuffardi O. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173.
  • Bonaglia MC, Giorda R, Zanini S. A new patient with a terminal de novo 2p25.3  deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder. Mol Cytogenet. 2014 Aug 5;7:53. doi:10.1186/1755-8166-7-53.
  • Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Testis development in the absence of SRY: chromosomal rearrangements  at SOX9 and SOX3. Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi:10.1038/ejhg.2014.237.
  • Fanizza I, Bertuzzo S, Beri S, Scalera E, Massagli A, Sali ME, Giorda R, Bonaglia MC. Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion. Eur J Med Genet. 2014 Jul;57(7):334-8.  doi: 10.1016/j.ejmg.2014.04.009.
  • Bonaglia MC, Marelli S, Novara F, Commodaro S, Borgatti R, Minardo G, Memo L,  Mangold E, Beri S, Zucca C, Brambilla D, Molteni M, Giorda R, Weber RG, Zuffardi  O. Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Eur J Hum Genet. 2010 Dec;18(12):1302-9. doi: 10.1038/ejhg.2010.115. Epub 2010 Jul 21.
  • Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J et al. Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001.
  • Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet. 2008 Dec;16(12):1443-9. doi: 10.1038/ejhg.2008.119.
  • De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, […], Vermeesch JR, Zuffardi O. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2007 Dec;44(12):750-62. Epub 2007 Aug 31.
  • Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, Panarisi AM, Di Rocco M, Balottin U, Bresolin N, Bassi MT, Borgatti R. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006 Mar;34(3):186-93.
  • Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.J Med Genet. 2006 Oct;43(10):822-8. Epub 2005 Nov 11.
  • Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet. 2001 Aug;69(2):261-8. Epub 2001 Jun 18.

Book Chapters

Bonaglia MC, Giorda R, Ciccone R, Zuffardi O ( 2010). Chromosome 22q13 rearrangements causing developmental delay and Autistic Spectrum Disorders. In: Genetics of Mental Retardation: An Overview Encompassing Learning Disability and Intellectual Disability. p. 137-150, Karger Publishers, ISBN: 9783805592802


Department of Molecular Medicine, University of Pavia
Department of Brain and Behavioral Sciences, University of Pavia
Department of Cellular and Molecular Medicine, University of Copenhagen


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