2q32 microdeletion syndrome in a patient from the western Amazon
DOI:
https://doi.org/10.11606/issn.2176-7262.rmrp.2023.190243Keywords:
Genetics, Chromosome deletion, Human chromosomes pair 2Abstract
Introduction: Interstitial deletions involving the 2q31q32 region are recognized as a clinical disorder involving several manifestations, such as intellectual disability, growth retardation, behavioral disorders, and facial dysmorphologies. The reduced number of reports of patients affected by this syndrome contributes to the difficulty of making genotypephenotype correlations. Case report: Patient with inversion of the long arm of chromosome 2 [46, XX,inv(2 (q21q33)]. On physical examination, he had a prominent forehead, epicanthus, low nasal bridge, long nasolabial philtrum and thin upper lip. Neurological examination showed hypotonia. Discussion: A correct chromosomal interpretation can identify the microdeletion syndrome and rule out or confirm possible differential diagnoses, highlighting the need and importance of recognizing and documenting cases.
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References
Kuczynski E. Sporadic chromosomal abnormalities associated with the autistic syndrome. Infanto - Journal of Child and Adolescent Neuropsychiatry [Internet]. 1996 [quoted July 06, 2021];4(2):26-36. Available in: http://www.psiquiatriainfantil.com.br/revista/edicoes/Ed_04_2/in_10_07.pdf
Ferreira SI, Matoso E, Venâncio M, Saraiva J, Melo JB, Carreira IM. Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region. Mol Cytogenet [Internet]. 2012 [quoted July 06, 2021];5:25. Available in: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460744/#B1
Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, et al. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet [Internet]. 2005 [quoted July 07, 2021];48: 276– 289. Available in: https://www-sciencedirect.ez8.periodicos.capes.gov.br/science/article/pii/S1769721205000832
Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, et al. 2q31.2q32.3 deletion syndrome: Report of an adult patient. Am J Med Genet A [Internet]. 2009 [quoted June 07, 2021];149A:706-712. Available in: https://www-sciencedirect.ez8.periodicos.capes.gov.br/science/article/pii/S1769721205000832?via%3Dihub
Cormack AM, Taylor J, Gregersen N, George AM, Love DR. Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes. Case Reports in Genetics [Internet]. 2013 [quoted July 07, 2021]. Available in: https://www.hindawi.com/journals/crig/2013/823451
Cocchella A, Malacarne M, Forzano F, Marciano C, Pierluigi M, Perroni L, et al. The Refinement of the Critical Region for the 2q31.2q32.3 Deletion Syndrome Indicates Candidate Genes for Mental Retardation and Speech Impairment. Am J Med Genet B Neuropsychiatr Genet [Internet]. 2010 [quoted June 07, 2021];153B:1342-1346. Available in: https://doi.org/10.1002/ajmg.b.31107
Array Comparative Genomic Hybridization - aCGH - Tempo Digital Magazine from the Federal University of Bahia [Internet]. 2021 [quoted June 12, 2021];4(2):26-36. Available in: https://genetica.hupes.ufba.br/hibridizacao-genomica-comparativa-em-array-acgh
Rifai L, Port-Lis M, Tabet A, Bailleul-Forestier I, Benzacken B, Drunat S, et al. Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. Am J Med Genet A [Internet]. 2010 [quoted July 14, 2021];152(1):111–117. Available in: https://www.ncbi.nlm.nih.gov/pubmed/20034071
Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, Mari F. Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH. Am J Med Genet A [Internet]. 2007 [quoted July 14, 2021];143A(8):858-65. Available in: https://pubmed.ncbi.nlm.nih.gov/17352388
Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, et al. Case series: 2q33.1 microdeletion syndrome-further delineation of the phenotype. J Med Genet [Internet]. 2011 [quoted July 14, 2021];48(5):290–298. Available in: https://www.ncbi.nlm.nih.gov/pubmed/21343628
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Copyright (c) 2023 Wilyan Dias Cosmo Oliveira, Christian Rogers Gomes da Silva, Christopher Harrison Salomão Andrade, Edilson Moreira Borges, Gabriele Batista de Sá, Joshua Werner Bicalho da Rocha
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