PMID- 8582397
OWN - NLM
STAT- MEDLINE
DCOM- 19960321
LR  - 20190814
IS  - 0340-6199 (Print)
IS  - 0340-6199 (Linking)
VI  - 154
IP  - 11
DP  - 1995 Nov
TI  - Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: 
      a prospective study.
PG  - 878-81
AB  - Recent molecular studies have revealed that a 22q11 deletion is frequently 
      detected in DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and 
      conotruncal anomaly face syndrome (CTAFS). As one of the major clinical 
      manifestations in these three syndrome is conotruncal cardiac malformation, we 
      prospectively studied the frequency of a 22q11 deletion in a group of patients 
      with conotruncal cardiac malformation. Fluorescence in situ hybridization (FISH) 
      analyses using N25 (D22S75) DiGeorge Chromosome Region probe were performed on 64 
      patients with conotruncal cardiac malformation, who visited our clinic from 
      October 1993 to January 1994. Of the 64 patients studied, a 22q11 deletion was 
      detected in 5 patients (7.8%): 3 out of 30 patients with tetralogy of Fallot, one 
      of three with interruption of the aortic arch, and one hemitruncus patient. No 
      deletion was found in 16 patients with complete transposition of the great 
      arteries, 8 with double outlet right ventricle and 2 with aortopulmonary window. 
      In these five patients with 22q11 deletion, patient 1 was clinically diagnosed as 
      having DGS, patients 2 and 3 had CTAFS, and patient 4 had VCFS. Patient 5 could 
      not be dysmorphologically evaluated. It was noteworthy that all patients with a 
      22q11 deletion, except a non-evaluated patient, had some symptoms DGS, CTAFS or 
      VCFS, and that we failed to identify a non-syndromic 22q11 deletion positive 
      patients in the present series' of 64 patients. Conclusion. This study suggests 
      that it is advisable to bear 22q11 deletion in mind when a patient with 
      conotruncal cardiac anomalies has some other features of DGS, VCFS or CTAFS.
FAU - Takahashi, K
AU  - Takahashi K
AD  - Division of Cardiology, Saitama Children's Medical Centre, Japan.
FAU - Kido, S
AU  - Kido S
FAU - Hoshino, K
AU  - Hoshino K
FAU - Ogawa, K
AU  - Ogawa K
FAU - Ohashi, H
AU  - Ohashi H
FAU - Fukushima, Y
AU  - Fukushima Y
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Eur J Pediatr
JT  - European journal of pediatrics
JID - 7603873
SB  - IM
CIN - Eur J Pediatr. 1996 Jul;155(7):619-20. PMID: 8831090
CIN - Eur J Pediatr. 1996 Aug;155(8):721. PMID: 8839734
MH  - Abnormalities, Multiple/genetics
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/genetics
MH  - Face/abnormalities
MH  - Female
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - Prospective Studies
MH  - Syndrome
EDAT- 1995/11/01 00:00
MHDA- 1995/11/01 00:01
CRDT- 1995/11/01 00:00
PHST- 1995/11/01 00:00 [pubmed]
PHST- 1995/11/01 00:01 [medline]
PHST- 1995/11/01 00:00 [entrez]
AID - 10.1007/BF01957496 [doi]
PST - ppublish
SO  - Eur J Pediatr. 1995 Nov;154(11):878-81. doi: 10.1007/BF01957496.