The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

被引：3
作者：
Cardenas-Nieto, Diana [1 ,2 ]
Forero-Castro, Maribel [2 ]
Esteban-Perez, Clara [2 ]
Martinez-Lozano, Julio [3 ]
Briceno-Balcazar, Ignacio [3 ]
机构：
[1] Univ Pedag & Tecnol Colombia, Programa Maestria Ciencias Biol, Grp Invest Ciencias Biomed GICBUPTC, Tunja, Colombia
[2] Univ Pedag & Tecnol Colombia, Escuela Ciencias Biol, Grp Invest Ciencias Biomed GICBUPTC, Tunja, Colombia
[3] Univ La Sabana, Fac Med, Grp Invest Genet Humana, Chia, Colombia
来源：
JOURNAL OF PEDIATRIC GENETICS | 2020年 / 9卷 / 01期
关键词：
22q11; 2DS; cleft lip and; or palate; congenital heart disease; systematic review; IN-SITU HYBRIDIZATION; DELETION SYNDROME; VELOCARDIOFACIAL-SYNDROME; CLINICAL-FEATURES; PHENOTYPIC FEATURES; MEXICAN PATIENTS; CHILDREN; PREVALENCE; DEFECTS; FREQUENCY;
D O I：
10.1055/s-0039-1698804
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD). In a literature review, we consider this association of 22q11.2DS in pediatric patients with CL/P and CHD. Early diagnosis of 22q11.2DS in pediatric patients with CL/P and CHD helps to optimize a multidisciplinary treatment approach for 22q11DS. Early diagnosis, thereby, can improve quality of life for these patients and awareness of other potential clinical implications that may require attention throughout the patient's life.
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页码：1 / 8
页数：8
相关论文
共 100 条
  • [81] Sarmiento M, 2012, ANALISIS CITOGENETIC
  • [82] Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases
    Sgardioli, Ilaria C.
    Copelli, Matheus de Mello
    Monteiro, Fabiola P.
    dos Santos, Ana P.
    Mendes, Elaine Lustosa
    Vieira, Tarsis Paiva
    Gil-da-Silva-Lopes, Vera L.
    [J]. MOLECULAR SYNDROMOLOGY, 2017, 8 (05) : 244 - 252
  • [83] Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health
    Sgardioli, Ilaria Cristina
    Monteiro, Fabiola Paoli
    Fanti, Paulo
    Paiva Vieira, Tarsis
    Gil-da-Silva-Lopes, Vera Lucia
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (1)
  • [84] Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate:: a new diagnostic approach
    Shouman, N
    Pabst, B
    Arslan-Kirchner, M
    Eckardt, A
    Schönweller, R
    Ptok, M
    Mehraein, Y
    Schmidtke, J
    Miller, K
    [J]. INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY, 2003, 32 (02) : 198 - 200
  • [85] Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples
    Sorensen, Karina M.
    Agergaard, Peter
    Olesen, Charlotte
    Andersen, Paal S.
    Larsen, Lars A.
    Ostergaard, John R.
    Schouten, Jan P.
    Christiansen, Michael
    [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2010, 12 (02) : 147 - 151
  • [86] Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease
    Sue Marquez-Avila, Candy
    Vizcaino-Alarcon, Alfredo
    Garcia-Delgado, Constanza
    Maria Nunez-Martinez, Paulina
    Flores-Ramirez, Francisco
    Reyes-de la Rosa, Alejandra del Pilar
    Mendelsberg-Fishbein, Paola
    Ibarra-Grajeda, Diana
    Medina-Bravo, Patricia
    Balderrabano-Saucedo, Norma
    Esteva-Solsona, Salvador
    del Carmen Marquez-Quiroz, Luz
    Flores-Cuevas, Arturo
    Sanchez-Urbina, Rocio
    Berenice Morales-Jimenez, Ariadna
    Garibay-Nieto, Nayely
    Del Bosque-Garza, Jesus
    Pietropaolo-Cienfuegos, Dino
    Gutierrez-Camacho, Claudia
    Garcia-Morales, Leticia
    Fabiola Moran-Barroso, Veronica
    [J]. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2015, 79 (11) : 1886 - 1891
  • [87] Birth Prevalence of Congenital Heart Disease Worldwide A Systematic Review and Meta-Analysis
    van der Linde, Denise
    Konings, Elisabeth E. M.
    Slager, Maarten A.
    Witsenburg, Maarten
    Helbing, Willem A.
    Takkenberg, Johanna J. M.
    Roos-Hesselink, Jolien W.
    [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2011, 58 (21) : 2241 - 2247
  • [88] Vásquez-Echeverri Estefanía, 2016, Infect., V20, P53, DOI 10.1016/j.infect.2015.07.002
  • [89] Phenotypic Variability of Atypical 22q11.2 Deletions Not Including TBX1
    Verhagen, Judith M. A.
    Diderich, Karin E. M.
    Oudesluijs, Gretel
    Mancini, Grazia M. S.
    Eggink, Alex J.
    Verkleij-Hagoort, Anna C.
    Groenenberg, Irene A. L.
    Willems, Patrick J.
    du Plessis, Frederik A.
    de Man, Stella A.
    Srebniak, Malgorzata I.
    van Opstal, Diane
    Hulsman, Lorette O. M.
    van Zutven, Laura J. C. M.
    Wessels, Marja W.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (10) : 2412 - 2420
  • [90] Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects
    Vittorini, S
    Sacchelli, M
    Iascone, MR
    Collavoli, A
    Storti, S
    Giusti, A
    Andreani, G
    Botto, N
    Biagini, A
    Clerico, A
    [J]. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2001, 39 (12) : 1249 - 1258
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