Trisomía 22 en un recién nacido de 39 semanas

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spelling	Trisomía 22 en un recién nacido de 39 semanas ávila, Ana María Fernández, Isabel Linares, Boris Quevedo, María Luisa Aguana, Carlos David Celis, Luis Gustavo Cerebral MRI CT scan Dimorphism Malformations Trisomy 22 Dimorfismo Malformaciones Resonancia magnética cerebral Tomografía axial Trisomía 22 12 21 Artículo de revista Journal article 2014-06-30 00:00:00 2014-06-30 00:00:00 2014-06-30 application/pdf text/html Universidad Colegio Mayor de Cundinamarca y Universidad Nacional Abierta y a Distancia - UNAD NOVA 1794-2470 2462-9448 https://revistas.unicolmayor.edu.co/index.php/nova/article/view/253 10.22490/24629448.999 https://doi.org/10.22490/24629448.999 https://creativecommons.org/licenses/by-nc-sa/4.0/ Heinrich T, Nanda I, Rehn M, et al. Liveborn 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. Nonmosaic 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 Genet. 1997; 71(4):406-413. Vaglio A, Milunsky A, Huang XL, et al. A 21 years follow up of a girl patient with a pseudodicentric bisatellited chromoso-me 22 associated with partial trisomy 22pter->22q12.1: clinical, cytogenetic and molecular observations. Eur J Med Genet. 2008; 51(4):332-342. 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 threedimensional ultra-sonography. Obstet Gynecol. 1998; 91(4):500-505. Hall HE, Surti U, Hoffner L, Shirley S, Feingold E, Hassold T. The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction. Am J Med Genet A. 2007; 143A(19):2249-2255. 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 of chromosome 21. Hum Mol Genet. 1997; 6(9):1391-1399. Thomas S, Parker M, Tan J, Duckett D, Woodruff G. Ocular manifestations of mosaic trisomy 22: a case report and review of the literature. Ophthalmic Genet. 2004; 25(1):53-56. 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, Bloughpfau RI, Saal HM, Hopkin RJ. Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history. Am J Med Genet A. 2003; 118 A(1):90-95. 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, KÃ¶rtge-jung S, Hickmann G, Kozlowski P. Prenatal sonographic findings in trisomy 22: five case reports and review of the literature. J Ultrasound Med. 2005; 24(11):1547-1553. Shih JC, Shyu MK, Lee CN, Wu CH, Lin GJ, Hsieh FJ. An-tenatal depiction of the fetal ear with three-dimensional ultra-sonography. Obstet Gynecol. 1998; 91(4):500-505. Leclercq S, Baron X, Jacquemont ML, Cuillier F, Cartault F. Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management. Prenat Diagn. 2010; 30(2):168-172. Abdelgadir D, Nowaczyk MJ, Li C. Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature. Am J Med Genet A. 2013;161 A (5):1126-1131. 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. 2004; 13(2):99-102. 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, and dental outcomes. Am J Med Genet A. 2007; 143A(17):2070-2074. 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; 33:35-41. Vora NL, OÂ´brien BM. Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. Obstet Gynecol. 2014; 123(5):1097-1099. ---------------------------------------------------------------------------- DOI: http://dx.doi.org/10.22490/24629448.999 https://revistas.unicolmayor.edu.co/index.php/nova/article/download/253/505 https://revistas.unicolmayor.edu.co/index.php/nova/article/download/253/506 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 http://purl.org/coar/resource_type/c_2df8fbb1 http://purl.org/redcol/resource_type/ART info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 Text Publication
institution	UNIVERSIDAD COLEGIO MAYOR DE CUNDINAMARCA
thumbnail	https://nuevo.metarevistas.org/UNIVERSIDADCOLEGIOMAYORDECUNDINAMARCA/logo.png
country_str	Colombia
collection	NOVA
title	Trisomía 22 en un recién nacido de 39 semanas
spellingShingle	Trisomía 22 en un recién nacido de 39 semanas ávila, Ana María Fernández, Isabel Linares, Boris Quevedo, María Luisa Aguana, Carlos David Celis, Luis Gustavo Cerebral MRI CT scan Dimorphism Malformations Trisomy 22 Dimorfismo Malformaciones Resonancia magnética cerebral Tomografía axial Trisomía 22
title_short	Trisomía 22 en un recién nacido de 39 semanas
title_full	Trisomía 22 en un recién nacido de 39 semanas
title_fullStr	Trisomía 22 en un recién nacido de 39 semanas
title_full_unstemmed	Trisomía 22 en un recién nacido de 39 semanas
title_sort	trisomía 22 en un recién nacido de 39 semanas
author	ávila, Ana María Fernández, Isabel Linares, Boris Quevedo, María Luisa Aguana, Carlos David Celis, Luis Gustavo
author_facet	ávila, Ana María Fernández, Isabel Linares, Boris Quevedo, María Luisa Aguana, Carlos David Celis, Luis Gustavo
topic	Cerebral MRI CT scan Dimorphism Malformations Trisomy 22 Dimorfismo Malformaciones Resonancia magnética cerebral Tomografía axial Trisomía 22
topic_facet	Cerebral MRI CT scan Dimorphism Malformations Trisomy 22 Dimorfismo Malformaciones Resonancia magnética cerebral Tomografía axial Trisomía 22
citationvolume	12
citationissue	21
publisher	Universidad Colegio Mayor de Cundinamarca y Universidad Nacional Abierta y a Distancia - UNAD
ispartofjournal	NOVA
source	https://revistas.unicolmayor.edu.co/index.php/nova/article/view/253
language
format	Article
rights	https://creativecommons.org/licenses/by-nc-sa/4.0/ info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2
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type_version	info:eu-repo/semantics/publishedVersion
type_coarversion	http://purl.org/coar/version/c_970fb48d4fbd8a85
type_content	Text
publishDate	2014-06-30
date_accessioned	2014-06-30 00:00:00
date_available	2014-06-30 00:00:00
url	https://revistas.unicolmayor.edu.co/index.php/nova/article/view/253
url_doi	https://doi.org/10.22490/24629448.999
issn	1794-2470
eissn	2462-9448
doi	10.22490/24629448.999
url2_str_mv	https://revistas.unicolmayor.edu.co/index.php/nova/article/download/253/505
url3_str_mv	https://revistas.unicolmayor.edu.co/index.php/nova/article/download/253/506
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