PMID- 12548732
OWN - NLM
STAT- MEDLINE
DCOM- 20030520
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 117A
IP  - 1
DP  - 2003 Feb 15
TI  - DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, 
      and clinical reports on the proximal 22q11 deletion.
PG  - 1-5
AB  - DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different 
      deletion intervals on chromosomes 22q11, while the DiGeorge anomaly (with other 
      findings) is seen in patients with deletions of 10p14. The clinical outcome with 
      the common 22q11 deletion (90% of cases) is well known, but the outcome with the 
      less frequent deletion types has not been well documented. Using cytogenetic and 
      fluorescence in situ hybridization (FISH) analysis we studied a series of 295 
      patients with suspected DG/VCFS. We identified 58 subjects with a 22q11 deletion, 
      and none with a 10p deletion. Fifty-two subjects had the common deletion, five 
      had the proximal deletion, and one had an atypical proximal deletion due to a 
      1;22 translocation. We report clinical data of four subjects with the proximal 
      22q11 microdeletion, and of one patient with the atypical proximal deletion. The 
      anomalies observed with the proximal 22q11 microdeletion fell within the DG/VCFS 
      spectrum. Two females, 6 and 25 years old, had normal mental development. Normal 
      development has been reported with the common 22q11 deletion, but only in a 
      minority of cases. This study may indicate a better intellectual and/or 
      behavioral outcome with the proximal vs. the common 22q11 deletion, rather than a 
      chance finding.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Bartsch, Oliver
AU  - Bartsch O
AD  - Institut fur Klinische Genetik, Medizinische Fakultat Carl Gustav Carus, 
      Technische Universitat Dresden, Dresden, Germany. obartsch@rcs.urz.tu-dresden.de
FAU - Nemeckova, Michaela
AU  - Nemeckova M
FAU - Kocarek, Eduard
AU  - Kocarek E
FAU - Wagner, Annett
AU  - Wagner A
FAU - Puchmajerova, Alena
AU  - Puchmajerova A
FAU - Poppe, Maja
AU  - Poppe M
FAU - Ounap, Katrin
AU  - Ounap K
FAU - Goetz, Petr
AU  - Goetz P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 10/genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Craniofacial Abnormalities/*pathology
MH  - DiGeorge Syndrome/*pathology
MH  - Female
MH  - Heart Defects, Congenital/*pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Syndrome
EDAT- 2003/01/28 04:00
MHDA- 2003/05/21 05:00
CRDT- 2003/01/28 04:00
PHST- 2003/01/28 04:00 [pubmed]
PHST- 2003/05/21 05:00 [medline]
PHST- 2003/01/28 04:00 [entrez]
AID - 10.1002/ajmg.a.10914 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Feb 15;117A(1):1-5. doi: 10.1002/ajmg.a.10914.