PMID- 36476817
OWN - NLM
STAT- MEDLINE
DCOM- 20221215
LR  - 20221221
IS  - 1665-1146 (Electronic)
IS  - 0539-6115 (Linking)
VI  - 79
IP  - 6
DP  - 2022
TI  - Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic 
      congenital heart defects from western Mexico.
PG  - 369-375
LID - 10.24875/BMHIM.22000078 [doi]
AB  - BACKGROUND: Congenital heart defects (CHD) are among the most frequent 
      manifestations of 22q11.2 deletion syndrome. Although we found relatively few 
      studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with 
      CHD, none of them has been performed in Mexico. METHODS: We conducted a 
      prospective hospital-based study from January 2017 to March 2021 in the Genetics 
      and Pediatric Cardiology Services of the Hospital Civil de Guadalajara Dr. Juan 
      I. Menchaca (Guadalajara, Mexico). All consecutive NBs identified with any 
      non-syndromic major CHD confirmed by echocardiography were eligible to 
      participate. A total of 98 NBs were included, 51 males and 47 females. 
      Fluorescence in situ hybridization (FISH) analysis was conducted to search for 
      deletion of chromosome 22q11.2 in interphase nuclei of standard lymphocyte 
      cultures. RESULTS: We found eight patients (8.2%) with CHD and the 22q11.2 
      deletion, all of them with conotruncal defects, particularly of the truncus 
      arteriosus (p = 0.013), tetralogy of Fallot (p = 0.024), and pulmonary atresia 
      with ventricular septal defect (p = 0.031) subtypes. With de exception of one 
      infant with hypocalcemia and another with hypocalcemia and thymic aplasia, the 
      diagnosis of 22q11.2 deletion was not clinically suspected in the other patients. 
      CONCLUSIONS: Our results confirm the importance of excluding the presence of the 
      22q11.2 deletion in every NB with CHDs, particularly of the conotruncal subtype, 
      even in the absence of other manifestations.
CI  - Copyright: (c) 2022 Permanyer.
FAU - Fabian-Morales, Gerardo E
AU  - Fabian-Morales GE
AD  - Centro de Registro e Investigacion sobre Anomalias Congenitas (CRIAC), Servicio 
      de Genetica y Unidad de Citogenetica, Division de Pediatria, Hospital Civil de 
      Guadalajara Dr. Juan I. Menchaca.
FAU - Bobadilla-Morales, Lucina
AU  - Bobadilla-Morales L
AD  - Centro de Registro e Investigacion sobre Anomalias Congenitas (CRIAC), Servicio 
      de Genetica y Unidad de Citogenetica, Division de Pediatria, Hospital Civil de 
      Guadalajara Dr. Juan I. Menchaca.
AD  - Instituto de Genetica Humana Dr. Enrique Corona-Rivera, Departamento de Biologia 
      Molecular y Genomica, Centro Universitario de Ciencias de la Salud, Universidad 
      de Guadalajara.
FAU - Pena-Padilla, Christian
AU  - Pena-Padilla C
AD  - Centro de Registro e Investigacion sobre Anomalias Congenitas (CRIAC), Servicio 
      de Genetica y Unidad de Citogenetica, Division de Pediatria, Hospital Civil de 
      Guadalajara Dr. Juan I. Menchaca.
FAU - Nieto-Garcia, Rafael
AU  - Nieto-Garcia R
AD  - Servicio de Cardiologia, Division de Pediatria, Hospital Civil de Guadalajara Dr. 
      Juan I. Menchaca. Guadalajara, Jalisco, Mexico.
FAU - Rivera-Ramirez, Pascuala B
AU  - Rivera-Ramirez PB
AD  - Servicio de Cardiologia, Division de Pediatria, Hospital Civil de Guadalajara Dr. 
      Juan I. Menchaca. Guadalajara, Jalisco, Mexico.
FAU - Corona-Rivera, Alfredo
AU  - Corona-Rivera A
AD  - Centro de Registro e Investigacion sobre Anomalias Congenitas (CRIAC), Servicio 
      de Genetica y Unidad de Citogenetica, Division de Pediatria, Hospital Civil de 
      Guadalajara Dr. Juan I. Menchaca.
AD  - Instituto de Genetica Humana Dr. Enrique Corona-Rivera, Departamento de Biologia 
      Molecular y Genomica, Centro Universitario de Ciencias de la Salud, Universidad 
      de Guadalajara.
FAU - Marquez-Mora, Aurea
AU  - Marquez-Mora A
AD  - Centro de Registro e Investigacion sobre Anomalias Congenitas (CRIAC), Servicio 
      de Genetica y Unidad de Citogenetica, Division de Pediatria, Hospital Civil de 
      Guadalajara Dr. Juan I. Menchaca.
FAU - Macias-Salcedo, Graciela
AU  - Macias-Salcedo G
AD  - Centro de Registro e Investigacion sobre Anomalias Congenitas (CRIAC), Servicio 
      de Genetica y Unidad de Citogenetica, Division de Pediatria, Hospital Civil de 
      Guadalajara Dr. Juan I. Menchaca.
FAU - Cuero-Quezada, Idalid
AU  - Cuero-Quezada I
AD  - Centro de Registro e Investigacion sobre Anomalias Congenitas (CRIAC), Servicio 
      de Genetica y Unidad de Citogenetica, Division de Pediatria, Hospital Civil de 
      Guadalajara Dr. Juan I. Menchaca.
FAU - Corona-Rivera, Jorge R
AU  - Corona-Rivera JR
AD  - Centro de Registro e Investigacion sobre Anomalias Congenitas (CRIAC), Servicio 
      de Genetica y Unidad de Citogenetica, Division de Pediatria, Hospital Civil de 
      Guadalajara Dr. Juan I. Menchaca.
AD  - Instituto de Genetica Humana Dr. Enrique Corona-Rivera, Departamento de Biologia 
      Molecular y Genomica, Centro Universitario de Ciencias de la Salud, Universidad 
      de Guadalajara.
LA  - eng
PT  - Journal Article
TT  - Frecuencia de la delecion del cromosoma 22q11.2 en recien nacidos con 
      cardiopatias congenitas no sindromicas del occidente de Mexico.
PL  - Mexico
TA  - Bol Med Hosp Infant Mex
JT  - Boletin medico del Hospital Infantil de Mexico
JID - 0414106
SB  - IM
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Prospective Studies
MH  - *Heart Defects, Congenital/epidemiology/genetics
MH  - Chromosomes
MH  - Mexico
OTO - NOTNLM
OT  - Atresia pulmonar con comunicacion interventricular
OT  - Bulbous nasal tip
OT  - Conotruncal defects
OT  - Defectos conotruncales
OT  - Pulmonary atresia with ventricular septal defect
OT  - Punta nasal bulbosa
OT  - Tetralogy of Fallot
OT  - Tetralogia de Fallot
EDAT- 2022/12/09 06:00
MHDA- 2022/12/15 06:00
CRDT- 2022/12/08 10:59
PHST- 2022/12/08 10:59 [entrez]
PHST- 2022/12/09 06:00 [pubmed]
PHST- 2022/12/15 06:00 [medline]
AID - j79/6/369 [pii]
AID - 10.24875/BMHIM.22000078 [doi]
PST - ppublish
SO  - Bol Med Hosp Infant Mex. 2022;79(6):369-375. doi: 10.24875/BMHIM.22000078.