PMID- 24880467
OWN - NLM
STAT- MEDLINE
DCOM- 20151109
LR  - 20211021
IS  - 1432-1971 (Electronic)
IS  - 0172-0643 (Linking)
VI  - 35
IP  - 8
DP  - 2014 Dec
TI  - Molecular screening for 22Q11.2 deletion syndrome in patients with congenital 
      heart disease.
PG  - 1356-62
LID - 10.1007/s00246-014-0936-0 [doi]
AB  - Few studies have investigated the prevalence of 22q11.2 deletion syndrome 
      (22q11.2DS) among patients with isolated heart defects or nonconotruncal heart 
      defects. Polymerase chain reaction (PCR) followed by length polymorphism 
      restriction fragment analysis (RFLP) is useful for low-cost molecular diagnosis 
      and screening. This cross-sectional study included 392 patients with congenital 
      heart disease, described clinical features, and performed PCR-RFLP for analysis 
      of polymorphism in three loci with a high heterozygosity rate located in the 
      typically deleted region of 1.5 megabases. Heterozygosity excluded 22q11.2DS. 
      Patients with homozygosity for the three markers underwent multiplex 
      ligation-dependent probe amplification (MLPA) and fluorescence in situ 
      hybridization (FISH) for the final diagnosis, estimating the prevalence of 
      22q11.2DS. The use of PCR-RFLP excluded 22q11.2DS in 81.6 % (n = 320) of 392 
      patients. Of the remaining 72 patients, 65 underwent MLPA, showing 22q11.2DS in 
      five cases (prevalence, 1.27 %). Four of these five patients underwent FISH, 
      confirming the MLPA results. All five patients with the deletion had heart 
      diseases commonly found with 22q11.2DS (interrupted aortic arch, persistent 
      truncus arteriosus, tetralogy of Fallot, and ventricular septal defect plus 
      atrial septal defect). Two patients had congenital extracardiac anomaly (one with 
      arched palate and micrognathia and one with hypertelorism). Three patients 
      reported recurrent respiratory infections, and one patient reported hypocalcemia. 
      All were underweight or short in stature for their age. This study contributed to 
      showing the prevalence of 22q11.2DS in patients with any congenital heart 
      disease, with or without other features of the syndrome. Patients with 22q11.2DS 
      may not have all the major features of the syndrome, and those that are found may 
      be due to the heart defect.
FAU - Huber, Janaina
AU  - Huber J
AD  - Unidade de Pesquisa, Instituto de Cardiologia/Fundacao Universitaria de 
      Cardiologia, Avenida Princesa Isabel, 370, Santana, Porto Alegre, RS, 90620-000, 
      Brazil.
FAU - Peres, Vivian Catarino
AU  - Peres VC
FAU - de Castro, Alexandre Luz
AU  - de Castro AL
FAU - dos Santos, Tiago Jeronimo
AU  - dos Santos TJ
FAU - da Fontoura Beltrao, Lauro
AU  - da Fontoura Beltrao L
FAU - de Baumont, Angelica Cerveira
AU  - de Baumont AC
FAU - Cossio, Silvia Liliana
AU  - Cossio SL
FAU - Dalberto, Tiago Pires
AU  - Dalberto TP
FAU - Riegel, Mariluce
AU  - Riegel M
FAU - Canedo, Andres Delgado
AU  - Canedo AD
FAU - Schaan, Beatriz D'Agord
AU  - Schaan BD
FAU - Pellanda, Lucia Campos
AU  - Pellanda LC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140601
PL  - United States
TA  - Pediatr Cardiol
JT  - Pediatric cardiology
JID - 8003849
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Cross-Sectional Studies
MH  - DiGeorge Syndrome/*diagnosis/*epidemiology/genetics
MH  - Female
MH  - Heart Defects, Congenital/*epidemiology/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Middle Aged
MH  - Multiplex Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length
MH  - Prevalence
MH  - Young Adult
EDAT- 2014/06/02 06:00
MHDA- 2015/11/10 06:00
CRDT- 2014/06/02 06:00
PHST- 2014/02/18 00:00 [received]
PHST- 2014/05/15 00:00 [accepted]
PHST- 2014/06/02 06:00 [entrez]
PHST- 2014/06/02 06:00 [pubmed]
PHST- 2015/11/10 06:00 [medline]
AID - 10.1007/s00246-014-0936-0 [doi]
PST - ppublish
SO  - Pediatr Cardiol. 2014 Dec;35(8):1356-62. doi: 10.1007/s00246-014-0936-0. Epub 
      2014 Jun 1.