PMID- 12919136
OWN - NLM
STAT- MEDLINE
DCOM- 20040415
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 64
IP  - 3
DP  - 2003 Sep
TI  - No justification of routine screening for 22q11 deletions in patients with overt 
      cleft palate.
PG  - 216-9
AB  - The velo-cardio-facial syndrome (VCFS), caused by a submicroscopic deletion of 
      chromosome 22q11, is the most common syndrome that has palatal anomalies as a 
      major feature. A possible strategy for early detection of VCFS is routine 
      screening for 22q11 deletions in all infants with cleft palate (CP). The purpose 
      of this study was to evaluate whether this strategy is preferable to testing on 
      clinical suspicion. At the Nijmegen Cleft Palate Craniofacial Center, 58 new 
      patients with overt CP were routinely tested, using fluorescence in situ 
      hybridization (FISH), for a 22q11 deletion. One deletion was identified in a 
      newborn girl with an overt CP who was clinically not suspected of having VCFS. 
      Based on this study (n = 45) and the literature (n = 54), the prevalence of 22q11 
      deletions among children with CP, but without any other symptoms of VCFS, is 
      estimated to be one in 99. We take the view that this figure is rather low and 
      that early discovery will rarely have significant clinical or genetic 
      consequences. Because CP patients remain under medical attention, almost all of 
      the infants with isolated CP and VCFS will be recognized as having the syndrome 
      at a later age when additional features have developed. Therefore, we conclude 
      that routine FISH testing for 22q11 deletions in infants with overt CP is not 
      indicated, provided clinical follow-up is guaranteed.
FAU - Ruiter, E M
AU  - Ruiter EM
AD  - Department of Human Genetics and Cleft Palate Craniofacial Unit, University 
      Medical Center Nijmegen, Nijmegen, the Netherlands. M.Ruiter@antrg.umcn.nl
FAU - Bongers, E M H F
AU  - Bongers EM
FAU - Smeets, D F C M
AU  - Smeets D
FAU - Kuijpers-Jagtman, A M
AU  - Kuijpers-Jagtman AM
FAU - Hamel, B C J
AU  - Hamel BC
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/epidemiology/*genetics
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/genetics/*ultrastructure
MH  - Cleft Palate/*genetics
MH  - Female
MH  - *Genetic Testing/statistics & numerical data
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Incidence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - *Neonatal Screening/statistics & numerical data
MH  - Netherlands/epidemiology
MH  - Prevalence
MH  - Syndrome
MH  - *Unnecessary Procedures
EDAT- 2003/08/16 05:00
MHDA- 2004/04/16 05:00
CRDT- 2003/08/16 05:00
PHST- 2003/08/16 05:00 [pubmed]
PHST- 2004/04/16 05:00 [medline]
PHST- 2003/08/16 05:00 [entrez]
AID - 134 [pii]
AID - 10.1034/j.1399-0004.2003.00134.x [doi]
PST - ppublish
SO  - Clin Genet. 2003 Sep;64(3):216-9. doi: 10.1034/j.1399-0004.2003.00134.x.