Síndrome deleción de 22q11.2: a propósito de dos casos

• Gutiérrez-Vargas, María Camila ^[1] ; Ostos-Alfonso, Henry
  1. [1] Universidad Surcolombiana

     Universidad Surcolombiana

     Colombia

     
• Localización: Duazary: Revista internacional de Ciencias de la Salud, ISSN-e 2389-783X, ISSN 1794-5992, Vol. 20, Nº. 3, 2023 (Ejemplar dedicado a: (July - September)), págs. 230-236
• Idioma: español
• DOI: 10.21676/2389783X.5365
• Títulos paralelos:
  • 22q11.2 deletion syndrome: About two cases
• Enlaces
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• Resumen
  • español

    El síndrome de deleción 22q11 es la microdeleción cromosómica más frecuente, con una prevalencia de 1 en 3 a 6000 nacidos vivos. Se presentarán dos casos femeninos pediátricos con microdeleción en 22q11.2 por hibridación genómica con pérdida de 2.54 Mb y 3 Mb cada uno. Caso 1: 12 años, con convulsiones, rasgos dismórficos, CIA tipo Ostium secundum. Caso 2: 11 años, alteración palatina, hiperlaxitud, hipocalcemia asintomática y deficiencia de vitamina D.  Ambos comparten rasgos dismórficos, retraso global del neurodesarrollo y cariotipo normal. Este estudio evidencia rasgos claves del síndrome que permite optimizar el diagnostico en futuros casos.

  • English

    The 22q11 deletion syndrome is the most common chromosomal microdeletion, with a prevalence of 1 in 3 to 6000 live births. Two pediatric female cases with microdeletion in 22q11.2 will be presented by genomic hybridization with loss of 2.54 Mb and 3 Mb each. Case 1: 12 years old, with seizures, dysmorphic features, Ostium secundum type CIA. Case 2: 11 years old, palatal alteration, hypermobility, asymptomatic hypocalcemia, and vitamin D deficiency. Both share dysmorphic features, global neurodevelopmental delay, and normal karyotype. This study demonstrates key features of the syndrome that allows optimizing the diagnosis in future cases.

       

• Referencias bibliográficas
  • Cirillo A, Lioncino M, Maratea A, Passariello A, Fusco A, Fratta F, et al. Clinical manifestations of 22q11. 2 deletion syndrome. Heart Fail...
  • McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;...
  • Goldmuntz E. 22q11.2 Deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020;184(1):64–72. https://doi.org/10.1002/ajmg.c.31774.
  • Hou HT, Chen HX, Wang XL, Yuan C, Yang Q, Liu ZG, et al. Genetic characterisation of 22q11.2 variations and prevalence in patients with congenital...
  • Shaikh TH, Kurahashi H, Saitta SC, O’Hare AM, Hu P, Roe BA, et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome:...
  • Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels MEM, et al. Central 22q11.2 deletions. Am J Med Genet...
  • Sullivan KE. Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Immunol Rev. 2019; 287(1): 186–201. https://doi.org/10.1111/imr.12701
  • McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 Deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine. 2011; 90(1):...
  • Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, et al. A decade's experience in pediatric chromosomal microarray reveals...
  • McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, et al. 22q11.2 Deletion syndrome. Nat Rev Dis Primers. 2015;...
  • Forbes BJ, Binenbaum G, Edmond JC, DeLarato N, McDonald-McGinn DM, Zackai EH. Ocular findings in the chromosome 22q11.2 deletion syndrome....
  • Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, et al. What is new with 22q? An update from the 22q and You Center at...
  • Widdershoven JCC, Bowser M, Sheridan MB, McDonald-McGinn DM, Zackai EH, Solot CB, et al. A candidate gene approach to identify modifiers of...
  • Wahrmann S, Kainulainen L, Kytö V, Lempainen J. Childhood manifestations of 22q11.2 deletion syndrome: a finnish nationwide register-based...
  • Baylis AL, Shriberg LD. Estimates of the prevalence of speech and motor speech disorders in youth with 22q11.2 deletion syndrome. Am J Speech...
  • de Smedt B, Swillen A, Verschaffel L, Ghesquière P. Mathematical learning disabilities in children with 22q11.2 deletion syndrome: A review....
  • Solot CB, Knightly C, Handler SD, Gerdes M, McDonald-Mcginn DM, Moss E, et al. Communication disorders in the 22q11.2 microdeletion syndrome....
  • Chang CS, Hong Y, Kim SY, Kim YM, Sung JH, Choi SJ, et al. Prevalence of associated extracardiac anomalies in prenatally diagnosed congenital...
  • Eaton CB, Thomas RH, Hamandi K, Payne GC, Kerr MP, Linden DEJ, et al. Epilepsy and seizures in young people with 22q11.2 deletion syndrome:...
  • Kelley L, Sanders AFP, Beaton EA. Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2...
  • Legitimo A, Bertini V, Costagliola G, Baroncelli GI, Morganti R, Valetto A, et al. Vitamin D status and the immune assessment in 22q11.2 deletion...
  • Homans JF, Baldew VGM, Brink RC, Kruyt MC, Schlösser TPC, Houben ML, et al. Scoliosis in association with the 22q11.2 deletion syndrome: an...
  • Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. Skeletal anomalies...