title: Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.
abstract: BACKGROUND
  Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is highly variable with facial, velopharyngeal, cardiac, endocrine, immunologic and psychiatric abnormalities. It is caused by a microdeletion in chromosome 22q11.2.
  
  
  OBJECTIVE
  We present 7 years of experience evaluating patients with VCFS regarding their main clinical characteristics.
  
  
  METHODS
  The patients included were multidisciplinary evaluated and had a positive FISH analysis for del22q11.2.
  
  
  RESULTS
  A total of 62 patients were assessed, a 34 female/28 male ratio was observed with ages ranging from 9 days to 16 years, all but one patient had typical facial features. A diagnosis of congenital heart disease was established in 97% of the patients; other clinical characteristics were identified with different percentages such as cleft palate, and hypocalcaemia. Three cases had a familial presentation.
  
  
  CONCLUSIONS
  While the clinical findings of this study were in general terms in keeping with the literature, it is interesting the unexpectedly high percentage of congenital heart disease identified in Mexican children with VCFS that also was the main cause for clinical referral.
authors.affiliation: Department of Audiology and Phoniatrics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: candymarqueza@prodigy.net.mx.
authors.forename: Candy Sue
authors.initials: CS
authors.lastname: Márquez-Ávila
authors.affiliation: Department of Cardiology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: avizca34@hotmail.com.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Vizcaíno-Alarcón
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: constanzagarciadelgado@yahoo.com.
authors.forename: Constanza
authors.initials: C
authors.lastname: García-Delgado
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: pau_nunez@hotmail.com.
authors.forename: Paulina María
authors.initials: PM
authors.lastname: Núñez-Martínez
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: franciscofloresramirez49@gmail.com.
authors.forename: Francisco
authors.initials: F
authors.lastname: Flores-Ramírez
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: areyesdelarosa@gmail.com.
authors.forename: Alejandra del Pilar
authors.initials: Adel P
authors.lastname: Reyes-de la Rosa
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: paola_m84@yahoo.com.
authors.forename: Paola
authors.initials: P
authors.lastname: Mendelsberg-Fishbein
authors.affiliation: Department of Audiology and Phoniatrics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: dig79@hotmail.com.
authors.forename: Diana
authors.initials: D
authors.lastname: Ibarra-Grajeda
authors.affiliation: Department of Endocrinology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: drapatty_75@hotmail.com.
authors.forename: Patricia
authors.initials: P
authors.lastname: Medina-Bravo
authors.affiliation: Department of Cardiology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: balderrabano_6@yahoo.es.
authors.forename: Norma
authors.initials: N
authors.lastname: Balderrábano-Saucedo
authors.affiliation: Department of Endocrinology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: esteva.endocrino@yahoo.com.
authors.forename: Salvador
authors.initials: S
authors.lastname: Esteva-Solsona
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: marquezquiroz@yahoo.com.mx.
authors.forename: Luz del Carmen
authors.initials: Ldel C
authors.lastname: Márquez-Quiróz
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: arturocuevas_14@yahoo.com.
authors.forename: Arturo
authors.initials: A
authors.lastname: Flores-Cuevas
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: rs_urbina@yahoo.com.mx.
authors.forename: Rocío
authors.initials: R
authors.lastname: Sánchez-Urbina
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: ariadnamorales@ciencias.unam.mx.
authors.forename: Ariadna Berenice
authors.initials: AB
authors.lastname: Morales-Jiménez
authors.affiliation: Department of Endocrinology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: gngaribay@hotmail.com.
authors.forename: Nayely
authors.initials: N
authors.lastname: Garibay-Nieto
authors.affiliation: Department of Psychiatrics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: drjesusdelbosque@gmail.com.
authors.forename: Jesús
authors.initials: J
authors.lastname: Del Bosque-Garza
authors.affiliation: Department of Allergy and Inmunology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: dpietro4@hotmail.com.
authors.forename: Dino
authors.initials: D
authors.lastname: Pietropaolo-Cienfuegos
authors.affiliation: Department of Education, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: claudia.g.cam@gmail.com.
authors.forename: Claudia
authors.initials: C
authors.lastname: Gutiérrez-Camacho
authors.affiliation: Department of Endocrinology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: letygarcia17@yahoo.com.mx.
authors.forename: Leticia
authors.initials: L
authors.lastname: García-Morales
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: vfmoran@himfg.edu.mx.
authors.forename: Verónica Fabiola
authors.initials: VF
authors.lastname: Morán-Barroso
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000150:complications / Q000208:ethnology* / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis / Q000208:ethnology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008800:Mexico; D010641:Phenotype; D015995:Prevalence
keywords: 22q11.2 deletion syndrome; Congenital heart disease; DiGeorge syndrome; Hypocalcaemia; Velocardiofacial syndrome