PMID- 11105620
OWN - NLM
STAT- MEDLINE
DCOM- 20001228
LR  - 20041117
IS  - 0041-4301 (Print)
IS  - 0041-4301 (Linking)
VI  - 42
IP  - 3
DP  - 2000 Jul-Sep
TI  - Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and 
      extracardiac malformations.
PG  - 215-8
AB  - CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic 
      hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 
      22q11. The deletion within the chromosome region of 22q11 may occur in patients 
      with dysmorphologic and cardiological syndromes: DiGeorge syndrome (DGS), 
      velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CAFS). 
      In this study, using N25 (D22S75) DiGeorge chromosome region probe. fluorescence 
      in situ hybridization (FISH) analyses were performed on 32 patients with 
      congenital heart diseases. Twenty-nine of 32 patients had conotruncal heart 
      disease. A 22q11 deletion was detected in two patients (6.9%) of the 29 patients 
      with conotruncal heart disease. One of our 22qdel (+) patients had unilateral 
      facial nerve palsy. Although it is not a frequent finding, unilateral facial 
      nerve palsy will be included among the symptoms of CATCH 22 syndrome. After 
      careful clinical evaluation of patients with conotruncal cardiac anomalies, only 
      syndromic cases should be screened for this deletion.
FAU - Alikasifoglu, M
AU  - Alikasifoglu M
AD  - Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, 
      Turkey.
FAU - Malkoc, N
AU  - Malkoc N
FAU - Ceviz, N
AU  - Ceviz N
FAU - Ozme, S
AU  - Ozme S
FAU - Uludogan, S
AU  - Uludogan S
FAU - Tuncbilek, E
AU  - Tuncbilek E
LA  - eng
PT  - Journal Article
PL  - Turkey
TA  - Turk J Pediatr
JT  - The Turkish journal of pediatrics
JID - 0417505
SB  - IM
MH  - Abnormalities, Multiple/epidemiology/*genetics
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 22
MH  - Facial Paralysis
MH  - Facies
MH  - Female
MH  - Heart Defects, Congenital/epidemiology/*genetics
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Prospective Studies
MH  - Syndrome
MH  - Thymus Gland/abnormalities
MH  - Turkey/epidemiology
EDAT- 2000/12/06 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/12/06 11:00
PHST- 2000/12/06 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/12/06 11:00 [entrez]
PST - ppublish
SO  - Turk J Pediatr. 2000 Jul-Sep;42(3):215-8.