PMID- 21134246
OWN - NLM
STAT- MEDLINE
DCOM- 20110810
LR  - 20211020
IS  - 1471-2431 (Electronic)
IS  - 1471-2431 (Linking)
VI  - 10
DP  - 2010 Dec 6
TI  - Frequency of 22q11.2 microdeletion in children with congenital heart defects in 
      western poland.
PG  - 88
LID - 10.1186/1471-2431-10-88 [doi]
AB  - BACKGROUND: The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome 
      -22q11.2DS) refers to congenital abnormalities, including primarily heart defects 
      and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. 
      Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis 
      of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The 
      aim of this study was to determine the frequency of 22q11.2 microdeletion in 87 
      children suffering from a congenital heart defect (conotruncal or 
      non-conotruncal) coexisting with at least one additional 22q11.2DS feature and to 
      carry out 22q11.2 microdeletion testing of the deleted children's parents. We 
      also attempted to identify the most frequent heart defects in both groups and 
      phenotypic traits of patients with microdeletion to determine selection criteria 
      for at risk patients. METHODS: The analysis of microdeletions was conducted using 
      fluorescence in situ hybridization (FISH) on metaphase chromosomes and interphase 
      nuclei isolated from venous peripheral blood cultures. A molecular probe (Tuple) 
      specific to the HIRA (TUPLE1, DGCR1) region at 22q11 was used for the 
      hybridisation. RESULTS: Microdeletions of 22q11.2 region were detected in 13 
      children with a congenital heart defect (14.94% of the examined group). 
      Microdeletion of 22q11.2 occurred in 20% and 11.54% of the conotruncal and 
      non-conotruncal groups respectively. Tetralogy of Fallot was the most frequent 
      heart defect in the first group of children with 22q11.2 microdeletion, while 
      ventricular septal defect and atrial septal defect/ventricular septal defect were 
      most frequent in the second group. The microdeletion was also detected in one of 
      the parents of the deleted child (6.25%) without congenital heart defect, but 
      with slight dysmorphism. In the remaining children, 22q11.2 microdeletion 
      originated de novo. CONCLUSIONS: Patients with 22q11.2DS exhibit wide spectrum of 
      phenotypic characteristics, ranging from discreet to quite strong. The deletion 
      was inherited by one child. Our study suggests that screening for 22q11.2 
      microdeletion should be performed in children with conotruncal and 
      non-conotruncal heart defects and with at least one typical feature of 22q11.2DS 
      as well as in the deleted children's parents.
FAU - Wozniak, Anna
AU  - Wozniak A
AD  - Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland. 
      wozniak_ania@interia.pl
FAU - Wolnik-Brzozowska, Danuta
AU  - Wolnik-Brzozowska D
FAU - Wisniewska, Marzena
AU  - Wisniewska M
FAU - Glazar, Renata
AU  - Glazar R
FAU - Materna-Kiryluk, Anna
AU  - Materna-Kiryluk A
FAU - Moszura, Tomasz
AU  - Moszura T
FAU - Badura-Stronka, Magdalena
AU  - Badura-Stronka M
FAU - Skolozdrzy, Joanna
AU  - Skolozdrzy J
FAU - Krawczynski, Maciej R
AU  - Krawczynski MR
FAU - Zeyland, Joanna
AU  - Zeyland J
FAU - Bobkowski, Waldemar
AU  - Bobkowski W
FAU - Slomski, Ryszard
AU  - Slomski R
FAU - Latos-Bielenska, Anna
AU  - Latos-Bielenska A
FAU - Siwinska, Aldona
AU  - Siwinska A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20101206
PL  - England
TA  - BMC Pediatr
JT  - BMC pediatrics
JID - 100967804
RN  - Chromosome 22, microdeletion 22 q11
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Female
MH  - *Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - Heart Defects, Congenital/diagnosis/*genetics
MH  - Heart Septal Defects, Atrial/genetics
MH  - Heart Septal Defects, Ventricular/genetics
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - Poland/epidemiology
MH  - Risk Factors
MH  - Tetralogy of Fallot/genetics
PMC - PMC3016365
EDAT- 2010/12/08 06:00
MHDA- 2011/08/11 06:00
PMCR- 2010/12/06
CRDT- 2010/12/08 06:00
PHST- 2010/08/30 00:00 [received]
PHST- 2010/12/06 00:00 [accepted]
PHST- 2010/12/08 06:00 [entrez]
PHST- 2010/12/08 06:00 [pubmed]
PHST- 2011/08/11 06:00 [medline]
PHST- 2010/12/06 00:00 [pmc-release]
AID - 1471-2431-10-88 [pii]
AID - 10.1186/1471-2431-10-88 [doi]
PST - epublish
SO  - BMC Pediatr. 2010 Dec 6;10:88. doi: 10.1186/1471-2431-10-88.