PMID- 16222476
OWN - NLM
STAT- MEDLINE
DCOM- 20051220
LR  - 20181203
IS  - 1093-5266 (Print)
IS  - 1093-5266 (Linking)
VI  - 8
IP  - 5
DP  - 2005 Sep-Oct
TI  - Differential detection of deletion 22q11.2 syndrome by specialty and indication.
PG  - 557-67
AB  - This study identified cytogenetic abnormalities in a population screened for 
      deletion 22q11.2 syndrome (D22S) by fluorescence in situ hybridization (FISH) and 
      G-banding and correlated these abnormalities to referring specialty and submitted 
      indications. Requests for the D22S FISH assay were retrospectively reviewed over 
      a 29-month period in our institution. Positive test results for D22S FISH and 
      other abnormalities found by other FISH assays and G-banding were correlated to 
      submitting specialist and indication. Thirteen medical services ordered D22S FISH 
      testing on 297 patients over 29 months. The detection rate for all cytogenetic 
      aberrations was 9.4% (28 of 297) including 5.4% (16 of 297) for D22S detection by 
      FISH and 2.7% (8 of 297) for detection of additional cytogenetic anomalies by 
      G-banding cytogenetics. Sixty-six of 297 patients negative by D22S FISH and 
      G-banding were screened using other FISH assays and 3 of 47 (6.4%) patients 
      screened using subtelomeric probes were positive for deletion and 1 of 3 (33%) 
      patients screened for Prader-Willi syndrome was positive for deletion. Pediatric 
      geneticists requested 53.9% (160 of 297) of the tests, yielding 60.7% (17 of 28) 
      of positive test results. Tetralogy of Fallot and developmental delay were the 
      indications associated with the most positive test results. In our institution, 
      pediatric geneticists identify the largest spectrum of indications with D22S and 
      appear most aware of the association of developmental delay with D22S. Performing 
      conventional cytogenetics and other FISH assays, in addition to FISH for D22S, is 
      important because there is considerable overlap between D22S and the phenotype of 
      several other syndromes.
FAU - Katzman, P J
AU  - Katzman PJ
AD  - Department of Pathology and Laboratory Medicine, University of Rochester Medical 
      Center, 601 Elmwood Avenue, Rochester, New York 14642, USA. 
      philip_katzman@urmc.rochester.edu
FAU - Wang, B
AU  - Wang B
FAU - Sawhney, M
AU  - Sawhney M
FAU - Wang, N
AU  - Wang N
LA  - eng
PT  - Journal Article
DEP - 20051012
PL  - United States
TA  - Pediatr Dev Pathol
JT  - Pediatric and developmental pathology : the official journal of the Society for 
      Pediatric Pathology and the Paediatric Pathology Society
JID - 9809673
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/*genetics
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Clinical Laboratory Techniques/*statistics & numerical data
MH  - DiGeorge Syndrome/diagnosis/genetics
MH  - Genetic Testing/*methods
MH  - Heart Defects, Congenital/diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Infant, Newborn
MH  - Reproducibility of Results
MH  - Retrospective Studies
EDAT- 2005/10/14 09:00
MHDA- 2005/12/21 09:00
CRDT- 2005/10/14 09:00
PHST- 2005/06/03 00:00 [received]
PHST- 2005/08/01 00:00 [accepted]
PHST- 2005/10/14 09:00 [pubmed]
PHST- 2005/12/21 09:00 [medline]
PHST- 2005/10/14 09:00 [entrez]
AID - 10.1007/s10024-005-0056-1 [doi]
PST - ppublish
SO  - Pediatr Dev Pathol. 2005 Sep-Oct;8(5):557-67. doi: 10.1007/s10024-005-0056-1. 
      Epub 2005 Oct 12.