PMID- 16463032
OWN - NLM
STAT- MEDLINE
DCOM- 20061114
LR  - 20181113
IS  - 0179-0358 (Print)
IS  - 0179-0358 (Linking)
VI  - 22
IP  - 4
DP  - 2006 Apr
TI  - FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or 
      cardiac abnormalities.
PG  - 380-3
AB  - DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS), called 22q11.2 deletion 
      syndrome in general, is the most common chromosomal deletion syndrome found in 
      humans. Typical facial features, palatal defects, conotruncal abnormalities of 
      the heart, aplasia/hypoplasia of the parathyroid glands and of thymus are 
      characteristics of this syndrome. Deletions of chromosome 22q11.2 (del22q11.2) 
      are the leading causes of DG7VCFS. We report on a systematic search by 
      fluorescence in situ hybridization (FISH) for deletions of chromosomes 22q11.2 in 
      patients with a clinical suspicion or diagnosis of DG/VCFS. Using FISH we studied 
      a series of 43 patients with suspected DG/VCFS. In this study, a total of 43 
      patients were investigated for the presence of a 22q11.2 deletion over a two-year 
      period. Del22q11.2 was detected in 5 of the 43 patients tested. All patients with 
      deletion had hypocalcemia, 80% had cardiac defects, 40% had facial dysmorphism, 
      40% had immunodeficiency , and 20% had otolaryngeal abnormalities. Chromosome 
      22q11.2 deletion is a relatively common condition and is readily diagnosed by 
      FISH. We suggest that FISH analysis of 22q11.2 deletion should be performed in 
      the presence of combined of hypocalcemia and congenital cardiac malformations, 
      with or without any characteristics of the disease. This may facilitate an early 
      diagnosis in such patients.
FAU - Yakut, Tahsin
AU  - Yakut T
AD  - Department of Medical Genetics, Medical Faculty, Uludag University, Bursa, 
      Turkey. tyakut@uludag.edu.tr
FAU - Kilic, Sara Sebnem
AU  - Kilic SS
FAU - Cil, Ergun
AU  - Cil E
FAU - Yapici, Esra
AU  - Yapici E
FAU - Egeli, Unal
AU  - Egeli U
LA  - eng
PT  - Journal Article
DEP - 20060204
PL  - Germany
TA  - Pediatr Surg Int
JT  - Pediatric surgery international
JID - 8609169
SB  - IM
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 22/genetics
MH  - DiGeorge Syndrome/complications/*diagnosis/*genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - *Gene Deletion
MH  - Heart Diseases/complications/*genetics
MH  - Humans
MH  - Immune System Diseases/complications/*genetics
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Prospective Studies
EDAT- 2006/02/08 09:00
MHDA- 2006/11/15 09:00
CRDT- 2006/02/08 09:00
PHST- 2006/01/09 00:00 [accepted]
PHST- 2006/02/08 09:00 [pubmed]
PHST- 2006/11/15 09:00 [medline]
PHST- 2006/02/08 09:00 [entrez]
AID - 10.1007/s00383-006-1641-8 [doi]
PST - ppublish
SO  - Pediatr Surg Int. 2006 Apr;22(4):380-3. doi: 10.1007/s00383-006-1641-8. Epub 2006 
      Feb 4.