PMID- 19565140
OWN - NLM
STAT- MEDLINE
DCOM- 20100208
LR  - 20190606
IS  - 1678-4170 (Electronic)
IS  - 0066-782X (Linking)
VI  - 92
IP  - 4
DP  - 2009 Apr
TI  - 22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome 
      phenotype.
PG  - 307-11
LID - S0066-782X2009000400010 [pii]
AB  - BACKGROUND: The 22q11.2 deletion syndrome is the most frequent human 
      microdeletion syndrome. The phenotype is highly variable, being characterized by 
      conotruncal heart defect, facial dysmorphisms, velopharyngeal insufficiency, 
      learning difficulties and mental retardation. OBJECTIVE: The objective of this 
      study was to investigate the frequency of deletion 22q11.2 in a Brazilian sample 
      of individuals with isolated conotruncal heart defect and 22q11.2 deletion 
      syndrome phenotype. METHODS: Twenty-nine patients were studied by classical 
      cytogenetics, by fluorescence in situ hybridization (FISH), and by molecular 
      techniques. RESULTS: Cytogenetic analysis by G-banding revealed a normal 
      karyotype in all patients except one who presented a 47,XX,+idic(22)(q11.2) 
      karyotype. Using molecular techniques, a deletion was observed in 25% of the 
      patients, all exhibiting a 22q11.2 deletion syndrome phenotype. In none of the 
      cases the deletion was inherited from the parents. The frequency of 22q11.2 
      deletion was higher in patients with the clinical spectrum of the 22q11.2 
      deletion syndrome than in patients with isolated conotruncal heart defect. 
      CONCLUSION: Investigating the presence of the deletion and its correlation with 
      the patients' clinical data can help the patients and their families to have a 
      better genetic counseling and more adequate clinical follow-up.
FAU - Belangero, Sintia Iole Nogueira
AU  - Belangero SI
AD  - Universidade Federal de Sao Paulo, Rua Botucatu 740, Vila Clementino, Sao Paulo, 
      SP, Brazil. sintia.morf@epm.br
FAU - Bellucco, Fernanda T S
AU  - Bellucco FT
FAU - Kulikowski, Leslie Domenici
AU  - Kulikowski LD
FAU - Christofolini, Denise M
AU  - Christofolini DM
FAU - Cernach, Mirlene C S P
AU  - Cernach MC
FAU - Melaragno, Maria Isabel
AU  - Melaragno MI
LA  - eng
LA  - por
LA  - spa
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Brazil
TA  - Arq Bras Cardiol
JT  - Arquivos brasileiros de cardiologia
JID - 0421031
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Brazil
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Female
MH  - Genetic Testing
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - Pedigree
MH  - Phenotype
MH  - Syndrome
MH  - Young Adult
EDAT- 2009/07/01 09:00
MHDA- 2010/02/09 06:00
CRDT- 2009/07/01 09:00
PHST- 2007/12/17 00:00 [received]
PHST- 2008/04/10 00:00 [accepted]
PHST- 2009/07/01 09:00 [entrez]
PHST- 2009/07/01 09:00 [pubmed]
PHST- 2010/02/09 06:00 [medline]
AID - S0066-782X2009000400010 [pii]
AID - 10.1590/s0066-782x2009000400010 [doi]
PST - ppublish
SO  - Arq Bras Cardiol. 2009 Apr;92(4):307-11. doi: 10.1590/s0066-782x2009000400010.