Trisomía 22 en un recién nacido de 39 semanas

• Ávila, Ana María ^[1] ; Fernández, Isabel ^[2] ; Linares, Boris ^[1] ; Quevedo, María Luisa ^[1] ; Aguana, Carlos David ^[1] ; Celis, Luis Gustavo ^[1]
  1. [1] Universidad de La Sabana

     Universidad de La Sabana

     Colombia

     
  2. [2] Unidad de Genética Médica. Policlínica Metropolitana, Caracas, Venezuela
• Localización: NOVA, ISSN-e 2462-9448, ISSN 1794-2470, Vol. 12, Nº. 21, 2014, págs. 103-108
• Idioma: español
• DOI: 10.22490/24629448.999
• Títulos paralelos:
  • Trisomy 22 in a newborn infant of 39 weeks
• Enlaces
  • Texto completo
• Resumen
  • español

    En este reporte presentamos el caso de un paciente masculino nacido de 39 semanas, producto de tercera gestación (dos abortos anteriores) de madre de 38 años y padre de 46 años. Las características clínicas del paciente incluyen macrocefalia, fontanela anterior amplia con diástasis de sutura sagital, escleras grisáceas, pabellones auriculares displásicos de implantación baja, raíz nasal corta, pliegue simiano en mano derecha e hirsutismo. Se obtienen tomografía axial computarizada de cráneo y resonancia magnética cerebral que presentan agenesia de cuerpo calloso y dilatación del asta occipital de los ventrículos laterales.El cariotipo en sangre periférica evidencia trisomía parcial del cromosoma 22 (47, XY+22, del (22) (q11.2qter)). El paciente requirió 7 días de hospitalización y se da egreso hospitalario en buenas condiciones generales pero con un retardo psicomotor severo e hipotonía generalizada. Dadas las malformacionesestructurales severas que se presentan en este síndrome, los embarazos a término y la supervivencia postnatal de los niños con trisomía 22 son eventos muy raros. El caso de este paciente complementa otros reportes ilustrando que la trisomía 22 puede sobrevivir más allá del nacimiento.

  • English

    In this report, we present the case of a male patient who was born 39 weeks, the product of third gestation (two previous abortions) with a 38 year old mother and a 46 year old father. The clinical characteristics of the patient include macrocephaly, extensive anterior fontanelle with diastasis recti sagittal suture, ochronosis grayish pavilions dysplastic headphones low-set, short nasal root, simian crease in her right hand and hirsutism. We obtained a computerized axial tomography of skull and a brain magnetic resonance with agenesis of the corpus callosum and dilation of the ASTA occipital of the lateral ventricles. The karyotype in peripheral blood evidence partial trisomy of chromosome 22 (47, XY+22, del (22) (q11.2qter)). The patient required 7 days of hospitalization and was released from the hospital in good condition overall, but with a psychomotor retardation and severe generalized hypotonia. Given the severe structural malformations that are present in this syndrome, the term pregnancy and post birth survival of children with trisomy 22 are very rare events. The case of this patient complements other reports illustrating that trisomy 22 can survive beyond birth.

• Referencias bibliográficas
  • Heinrich T, Nanda I, Rehn M, et al. Live-born trisomy 22: patient report and review. Mol Syndromol. 2013; 3(6):262-269.
  • Basaran N, Berkil H, Ay N, et al. A rare case: mosaic trisomy 22. Ann Genet. 2001; 44(4):183-186.
  • Mokate T, Leask K, Mehta S, et al. Non-mosaic trisomy 22: a report of 2 cases. Prenat Diagn. 2006; 26(10):962-965.
  • Crowe CA, Schwartz S, Black CJ, Jaswaney V. Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes. Am J Med...
  • Vaglio A, Milunsky A, Huang XL, et al. A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated...
  • Hassold TJ, Jacobs PA. Trisomy in man. Annu Rev Genet. 1984; 18:69-97.
  • Shih JC, Shyu MK, Lee CN, Wu CH, Lin GJ, Hsieh FJ. Antenatal depiction of the fetal ear with three-dimensional ultrasonography. Obstet Gynecol....
  • Hall HE, Surti U, Hoffner L, Shirley S, Feingold E, Hassold T. The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns...
  • Mihçi E, Taçoy S, Yakut S, et al. Maternal origin and clinical findings in a case with trisomy 22. Turk J Pediatr. 2007; 49(3):322-326.
  • Lamb NE, Feingold E, Savage A, et al. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction...
  • Thomas S, Parker M, Tan J, Duckett D, Woodruff G. Ocular manifestations of mosaic trisomy 22: a case report and review of the literature....
  • Rao VB, Seema K, Lily K, Ghosh K, Mohanty D. Trisomy 22 with unusual phenotype. Indian Pediatr. 2003; 40(4): 371-372.
  • Tinkle BT, Walker ME, Blough-pfau RI, Saal HM, Hopkin RJ. Unexpected survival in a case of prenatally diagnosed nonmosaic trisomy 22: Clinical...
  • Milic A, Blaser S, Robinson A, et al. Prenatal detection of microtia by MRI in a fetus with trisomy 22. Pediatr Radiol. 2006; 36(7):706-710.
  • Stressig R, Körtge-jung S, Hickmann G, Kozlowski P. Prenatal sonographic findings in trisomy 22: five case reports and review of the literature....
  • Shih JC, Shyu MK, Lee CN, Wu CH, Lin GJ, Hsieh FJ. Antenatal depiction of the fetal ear with three-dimensional ultrasonography. Obstet Gynecol....
  • Leclercq S, Baron X, Jacquemont ML, Cuillier F, Cartault F. Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic...
  • Abdelgadir D, Nowaczyk MJ, Li C. Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature....
  • Woods CG, Bankier A, Curry J, et al. Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J Med Genet. 1994; 31(9):694-701.
  • Ruiter EM, Toorman J, Hochstenbach R, De Vries BB. Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect. Clin Dysmorphol....
  • Hall T, Samuel M, Brain J. Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation. J Pediatr Surg. 2009; 44(1):e9-e11.
  • Florez L, Lacassie Y. Mosaic trisomy 22: report of a patient with normal intelligence. Am J Med Genet A. 2005; 132A(2):223-225.
  • Ohtani I, Kano M, Sagawa Y, Ogawa H, Suzuki C. Temporal bone histopathology in trisomy 22. Int J Pediatr Otorhinolaryngol. 2001; 59(2):137-141.
  • Lewis B, Fulton S, Short E, et al. A longitudinal case study of a child with mosaic trisomy 22: language, cognitive, behavioral, physical,...
  • Naicker T, Aldous C. Two Trisomy 22 Live Births in One Hospital in 15 Months: Is It as Rare as We Thought? Fetal and Pediatric Pathology 2014;...
  • Vora NL, O´brien BM. Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. Obstet Gynecol....