22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features
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| Format: | Artículo científico |
| Langue: | en |
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Universidad del Valle
2018
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| _version_ | 1876426475082612736 |
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| author | Azubel Ramírez-Velazco |
| author_facet | Azubel Ramírez-Velazco |
| contents | 22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features Azubel Ramírez-Velazco Horacio Rivera Ana Isabel Vásquez-Velázquez Thania Alejandra Aguayo-Orozco Saturnino Delgadillo-Pérez María Guadalupe Domínguez Medicina 22q11 2 deletion DiGeorge syndrome tetralogy of Fallot congenital heart defects Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies.Objective: We looked for a 22q11.2 deletion in Mexican patients with craniofacial dysmorphisms suggestive of DiGeorge or velocardiofacial syndromes and at least one major phenotypic feature (cardiac anomaly, immune deficiency, palatal defects or development delay). Methods: A prospective study of 39 patients recruited in 2012-2015 at the Instituto Mexicano del Seguro Social at Guadalajara, Mexico. The patients with velocardiofacial syndrome-like features or a confirmed tetralogy of Fallot (TOF) or complex cardiopathy were studied by G-banding and fluorescence in situ hybridization (FISH) with a dual TUPLE1(HIRA)/ARSA or TUPLE1(22q11)/22q13(SHANK3) probe, six patients without the 22q11.2 deletion (arbitrarily selected) were tested with the dual DiGeorge II (10p14)/D10Z1 probe. Results: Twenty-two patients (7 males and 15 females) had the 22q11.2 deletion and 17/39 did not have it; no patient had a 10p loss. Among the 22 deleted patients, 19 had congenital heart disease (mostly TOF). Twelve patients without deletion had heart defects such as TOF (4/12), isolate ventricular septal defect (2/12) or other disorders (6/12). Conclusion: In our small sample about ~56% of the patients, regardless of the clinical diagnosis, had the expected 22q11.2 deletion. We remark the importance of early cytogenetic diagnosis in order to achieve a proper integral management of the patients and their families. 2018 artículo científico 0120-8322 https://www.redalyc.org/articulo.oa?id=28357492005 https://www.redalyc.org/journal/283/28357492005/ https://www.redalyc.org/journal/283/28357492005/html/ https://www.redalyc.org/journal/283/28357492005/28357492005.epub https://www.redalyc.org/journal/283/28357492005/movil 10.25100/cm.v49i2.3402 en http://www.redalyc.org/revista.oa?id=283 Colombia Médica application/pdf Universidad del Valle Colombia Médica (Colombia) Num.3 Vol.49 |
| format | Artículo científico |
| id | redalyc_28357492005 |
| institution | Redalyc |
| language | en |
| publishDate | 2018 |
| publisher | Universidad del Valle |
| spellingShingle | 22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features Azubel Ramírez-Velazco Medicina 22q11 2 deletion DiGeorge syndrome tetralogy of Fallot congenital heart defects 22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features Azubel Ramírez-Velazco Horacio Rivera Ana Isabel Vásquez-Velázquez Thania Alejandra Aguayo-Orozco Saturnino Delgadillo-Pérez María Guadalupe Domínguez Medicina 22q11 2 deletion DiGeorge syndrome tetralogy of Fallot congenital heart defects Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies.Objective: We looked for a 22q11.2 deletion in Mexican patients with craniofacial dysmorphisms suggestive of DiGeorge or velocardiofacial syndromes and at least one major phenotypic feature (cardiac anomaly, immune deficiency, palatal defects or development delay). Methods: A prospective study of 39 patients recruited in 2012-2015 at the Instituto Mexicano del Seguro Social at Guadalajara, Mexico. The patients with velocardiofacial syndrome-like features or a confirmed tetralogy of Fallot (TOF) or complex cardiopathy were studied by G-banding and fluorescence in situ hybridization (FISH) with a dual TUPLE1(HIRA)/ARSA or TUPLE1(22q11)/22q13(SHANK3) probe, six patients without the 22q11.2 deletion (arbitrarily selected) were tested with the dual DiGeorge II (10p14)/D10Z1 probe. Results: Twenty-two patients (7 males and 15 females) had the 22q11.2 deletion and 17/39 did not have it; no patient had a 10p loss. Among the 22 deleted patients, 19 had congenital heart disease (mostly TOF). Twelve patients without deletion had heart defects such as TOF (4/12), isolate ventricular septal defect (2/12) or other disorders (6/12). Conclusion: In our small sample about ~56% of the patients, regardless of the clinical diagnosis, had the expected 22q11.2 deletion. We remark the importance of early cytogenetic diagnosis in order to achieve a proper integral management of the patients and their families. 2018 artículo científico 0120-8322 https://www.redalyc.org/articulo.oa?id=28357492005 https://www.redalyc.org/journal/283/28357492005/ https://www.redalyc.org/journal/283/28357492005/html/ https://www.redalyc.org/journal/283/28357492005/28357492005.epub https://www.redalyc.org/journal/283/28357492005/movil 10.25100/cm.v49i2.3402 en http://www.redalyc.org/revista.oa?id=283 Colombia Médica application/pdf Universidad del Valle Colombia Médica (Colombia) Num.3 Vol.49 |
| title | 22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features |
| topic | Medicina 22q11 2 deletion DiGeorge syndrome tetralogy of Fallot congenital heart defects |
| url | https://www.redalyc.org/articulo.oa?id=28357492005 https://www.redalyc.org/journal/283/28357492005/ https://www.redalyc.org/journal/283/28357492005/html/ https://www.redalyc.org/journal/283/28357492005/28357492005.epub https://www.redalyc.org/journal/283/28357492005/movil |