PMID- 9216164
OWN - NLM
STAT- MEDLINE
DCOM- 19970812
LR  - 20161013
IS  - 0929-6646 (Print)
IS  - 0929-6646 (Linking)
VI  - 96
IP  - 6
DP  - 1997 Jun
TI  - CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, 
      and nonsyndromic conotruncal defects.
PG  - 419-23
AB  - DiGeorge anomaly (DGA) and velocardiofacial syndrome (VCFS) are frequently 
      associated with monosomy of chromosomal subband 22q11. It is not clear whether 
      individuals who present with only some of the features (e.g., isolated 
      hypoparathyroidism or conotruncal defects) of these conditions also have the same 
      deletion. In a prospective study of 30 children from 1994 to 1996, we used both 
      high-resolution banding and fluorescence in situ hybridization (FISH) to assess 
      the deletion status of children with a wide range of DGA-like or VCFS-like 
      clinical features. Microdeletion of the chromosomal subband 22q11.22 was detected 
      in 17 children by high-resolution banding and in two additional children with 
      conotruncal defect (CTD) who had submicroscopic deletions proved by FISH 
      analyses. Of the patients with microscopical deletion (n = 17), only six had 
      classical DGA (n = 4) or VCFS (n = 2) phenotypes. The other 11 had various forms 
      of congenital heart defects as the only presenting signs of deletion. One patient 
      with DGA stigmata had another chromosomal aberration of monosomy 10p13. Only 10 
      patients were found to have neither cytogenetic nor molecular abnormalities. 
      Therefore, it appeared that the majority, if not all, of the DGA and VCFS 
      patients with the 22q11 deletion were identifiable using FISH with the single N25 
      (D22S75) probe. It would also be advisable that children with isolated CTD should 
      be carefully examined to detect the other morphologic abnormalities of DGA and 
      VCFS, or CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia/aplasia, 
      cleft palate, hypocalcemia, and 22q11 deletion). Once these abnormalities are 
      found, a molecular cytogenetic analysis for the so-called 22q11 region is 
      indicated. Because of other associated chromosomal findings, routine or 
      high-resolution cytogenetic analysis should be performed on patients with 
      suspected CATCH 22.
FAU - Hou, J W
AU  - Hou JW
AD  - Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.
FAU - Wang, J K
AU  - Wang JK
FAU - Tsai, W Y
AU  - Tsai WY
FAU - Chou, C C
AU  - Chou CC
FAU - Wang, T R
AU  - Wang TR
LA  - eng
PT  - Journal Article
PL  - Singapore
TA  - J Formos Med Assoc
JT  - Journal of the Formosan Medical Association = Taiwan yi zhi
JID - 9214933
SB  - IM
MH  - *Abnormalities, Multiple
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DiGeorge Syndrome/*genetics
MH  - *Facies
MH  - Gene Deletion
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Syndrome
MH  - Velopharyngeal Insufficiency/*genetics
EDAT- 1997/06/01 00:00
MHDA- 1997/06/01 00:01
CRDT- 1997/06/01 00:00
PHST- 1997/06/01 00:00 [pubmed]
PHST- 1997/06/01 00:01 [medline]
PHST- 1997/06/01 00:00 [entrez]
PST - ppublish
SO  - J Formos Med Assoc. 1997 Jun;96(6):419-23.