Skip to main content Skip to main navigation menu Skip to site footer
Published: 2019-12-25

Understanding the genetic nature of some mental disorders. 1q21.1 chromosome deletion syndrome. Short review

Medical Center
Chromosome 1Q21.1 Deletion Autism Schizophrenia


By studying genes, genetic variation and heredity, genetics opens the veil and enriches us with new knowledge about the nature of neuropsychiatric diseases. Appears, that both widespread and well-known diseases and very rare disorders not quite understood to science mostly are genetically determined and occupy certain areas (loci) in certain chromosomes, like books on the shelves in the library. Many chromosomal abnormalities manifesting behavioural and mental disorders are already known today.

The article highlights new knowledge about behaviour disorders associated with the first largest human chromosome. Various failures, such as deletion, microdeletion, or duplication at certain loci of this chromosome, it seems to play a significant role in the appearance of both well-known and poorly understanding neuropsychiatric disorders. Emphasis is placed on the deletion syndrome of its long shoulder - 1q21.1 chromosome deletion syndrome. The ideogram of the first chromosome is pointed below, and the abnormal loci are clearly identified and discussed. Modern diagnostic techniques used to determine chromosomal abnormalities are highlighted, and the possible mechanisms of the heritability is analyzed and discussed. Examples of possible clinical manifestations that have ever been found in carriers with this syndrome and methods of treatment and rehabilitation are underlined as well.

An important point is that an attempt is made to summarize knowledge of disorders caused by deletion and duplication of the long arm of chromosome 1q21.1. Scientists are actively seeking all possible links in the development of schizophrenia and autism in carriers.

The importance of understanding and knowing this is an integral part of the diagnostic and therapeutic processes for a modern psychiatrist. It is important to take this into account during the first meeting and talking with relatives or the patient himself. In addition, it is of great importance for the management of patients with the syndrome and for understanding the consequences and prognosis of neuropsychiatric disorders.

Full-text of the article is available for this locale: Українська.


  1. Attiyeh EF, London WB, Mosse YP, et al. Chromosome 1p and 11q deletions and outcome in neuroblastoma. N Engl J Med. 2005;353(21):2243-53. DOI: PMID:
  2. Harrow J1, Frankish A, Gonzalez JM, et al. GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res. 2012;22(9):1760-74. DOI: PMID:
  3. Gregory SG, Barlow KF, McLay KE, et al. The DNA sequence and biological annotation of human chromosome 1. Nature. 2006;441(7091):315–21. DOI: PMID:
  4. Millington K, Hudnall SD, Northup J, Panova N, Velagaleti G. Role of chromosome 1 pericentric heterochromatin (1q) in pathogenesis of myelodysplastic syndromes: report of 2 new cases. Exp Mol Pathol. 2008;84(2):189-93. DOI: PMID:
  5. Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat. 2010;31(7):763-80. DOI: PMID:
  6. Rocchi A, Pellegrini S, Siciliano G, Murri L. Causative and susceptibility genes for Alzheimer's disease: a review. Brain Res Bull. 2003;61(1):1-24. DOI: PMID:
  7. Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001;81(2):741-66. DOI: PMID:
  8. Haldeman-Englert CR, Jewett T. 1q211 Recurrent Microdeletion. Washington:GeneReviews; 2011. URL:
  9. GARD. Overview: 1q211 microdeletion syndrome. Gaithersburg:Office of Rare Diseases Research; 2011. URL:
  10. Rare Chromosome Disorder Support Group. Chromosome 1-1q211 microdeletion. Oxted: Unique; 2012. URL:
  11. Ploeger A. Towards an integration of evolutionary psychology and developmental science: New insights from evolutionary developmental biology. Amsterdam: University of Amsterdam; 2008. URL:
  12. Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q211 and variable pediatric phenotypes. N Engl J Med. 2008;359(16):1685–99. DOI: PMID:
  13. Ichimura K, Vogazianou AP, Liu L, et al. 1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas. Oncogene. 2008;27(14):2097-108. DOI: PMID:
  14. Klopocki E, Schulze H, Strauss G, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007;80(2):232-40. DOI: PMID:
  15. Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008;455(7210):232–6. DOI: PMID:
  16. Stone JL, O'Donovan MC, Gurling H, et al. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008;455 (7210): 237–41. DOI: PMID:
  17. Velinov M, Dolzhanskaya N. Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q211 microdeletions. Eur J Med Genet. 2010;53(4):213–6. 0.1016/j.ejmg.2010.05.005. PMID
  18. Diskin SJ, Hou C, Glessner JT, et al. Copy number variation at 1q211 associated with neuroblastoma. Nature. 2009;459(7249):987–991. DOI: PMID
  19. Kushner BH, Cheung NK. Neuroblastoma from genetic profiles to clinical challenge. N Engl J Med. 2005;24;353(21):2215-57. DOI: PMID:
  20. Shiel MSJ. Medical Definition of Autosomal dominant. URL:
  21. Morichon-Delvallez N. 1q211 microdeletion syndrome. Gaithersburg:Office of Rare Diseases Research; 2011. URL:
  22. Rosenfeld JA, Traylor RN, Schaefer GB, et al. Proximal microdeletions and microduplications of 1q211 contribute to variable abnormal phenotypes. Eur J Hum Genet. 2012;20(7):754-61. DOI: PMID:
  23. Nielsen J, Fejgin K, Sotty F, et al. A mouse model of the schizophrenia-associated 1q211 microdeletion syndrome exhibits altered mesolimbic dopamine transmission. Transl Psychiatry. 2017;7(11):1261. DOI: PMID:
  24. Dolcetti A, Silversides CK, Marshall CR et al. 1q211 Microduplication expression in adults. Genet Med. 2013;15(4):282-9. DOI: PMID:
  25. Brunetti-Pierri N, Berg JS, Scaglia F, et al Recurrent reciprocal 1q211 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008;40(12):1466-71. DOI: PMID:
  26. Levinson DF, Duan J, Oh S, et al. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry. 2011;168 (3):302–16. DOI: PMID:
  27. Ikeda M, Aleksic B, Kirov G, et al. Copy number variation in schizophrenia in the Japanese population. Biol Psychiatry. 2010;67(3):283–6. DOI: PMID: