PMID- 30410196
OWN - NLM
STAT- MEDLINE
DCOM- 20190304
LR  - 20220330
IS  - 1657-9534 (Electronic)
IS  - 0120-8322 (Print)
IS  - 0120-8322 (Linking)
VI  - 49
IP  - 3
DP  - 2018 Sep 30
TI  - 22q11.2 deletion detected by in situ hybridization in Mexican patients with 
      velocardiofacial syndrome-like features.
PG  - 219-222
LID - 10.25100/cm.v49i2.3402 [doi]
AB  - 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.
FAU - Ramirez-Velazco, Azubel
AU  - Ramirez-Velazco A
AD  - Doctorado en Genetica Humana - CUCS-, Universidad de Guadalajara, Guadalajara, 
      Mexico.
AD  - Division de Genetica - CIBO. Instituto Mexicano del Seguro Social, Guadalajara, 
      Mexico.
FAU - Rivera, Horacio
AU  - Rivera H
AD  - Doctorado en Genetica Humana - CUCS-, Universidad de Guadalajara, Guadalajara, 
      Mexico.
AD  - Division de Genetica - CIBO. Instituto Mexicano del Seguro Social, Guadalajara, 
      Mexico.
FAU - Vasquez-Velazquez, Ana Isabel
AU  - Vasquez-Velazquez AI
AD  - Division de Genetica - CIBO. Instituto Mexicano del Seguro Social, Guadalajara, 
      Mexico.
FAU - Aguayo-Orozco, Thania Alejandra
AU  - Aguayo-Orozco TA
AD  - Doctorado en Genetica Humana - CUCS-, Universidad de Guadalajara, Guadalajara, 
      Mexico.
AD  - Division de Genetica - CIBO. Instituto Mexicano del Seguro Social, Guadalajara, 
      Mexico.
FAU - Delgadillo-Perez, Saturnino
AU  - Delgadillo-Perez S
AD  - Hospital de Pediatria- UMAE-CMNO, Instituto Mexicano del Seguro Social, 
      Guadalajara, Mexico.
FAU - Dominguez, Maria Guadalupe
AU  - Dominguez MG
AD  - Division de Genetica - CIBO. Instituto Mexicano del Seguro Social, Guadalajara, 
      Mexico.
LA  - eng
PT  - Journal Article
DEP - 20180930
PL  - Colombia
TA  - Colomb Med (Cali)
JT  - Colombia medica (Cali, Colombia)
JID - 9212578
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Cytogenetic Analysis
MH  - DiGeorge Syndrome/*diagnosis/genetics/physiopathology
MH  - Female
MH  - Heart Defects, Congenital/*diagnosis/genetics
MH  - Heart Septal Defects, Ventricular/diagnosis/genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Mexico
MH  - Prospective Studies
MH  - Tetralogy of Fallot/*diagnosis/genetics
MH  - Young Adult
PMC - PMC6220481
OTO - NOTNLM
OT  - 22q11.2 deletion
OT  - DiGeorge syndrome
OT  - Tetralogy of Fallot
OT  - congenital heart defects.
OT  - craniofacial abnormalities
OT  - velocardiofacial syndrome
COIS- Conflicts of interest: The authors declare absence of any conflict of interest
EDAT- 2018/11/10 06:00
MHDA- 2019/03/05 06:00
PMCR- 2018/09/30
CRDT- 2018/11/10 06:00
PHST- 2018/11/10 06:00 [entrez]
PHST- 2018/11/10 06:00 [pubmed]
PHST- 2019/03/05 06:00 [medline]
PHST- 2018/09/30 00:00 [pmc-release]
AID - 10.25100/cm.v49i2.3402 [doi]
PST - epublish
SO  - Colomb Med (Cali). 2018 Sep 30;49(3):219-222. doi: 10.25100/cm.v49i2.3402.