PMID- 8849001
OWN - NLM
STAT- MEDLINE
DCOM- 19961024
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 59
IP  - 1
DP  - 1995 Oct 23
TI  - Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
PG  - 103-13
AB  - We report on a family with autosomal dominant paternally inherited "Opitz" GBBB 
      syndrome and an additional case with findings which have been reported in that 
      syndrome. In each case the propositus presented with a vascular ring. Since a 
      vascular ring may be a sign of a 22q11.2 deletion [Zacki et al., 1995], FISH 
      (fluorescence in situ hybridization) studies were performed. These studies 
      demonstrated a 22q11.2 deletion in the 3 affected individuals. Review of Opitz 
      GBBB syndrome and the 22q11.2 microdeletion syndrome demonstrates significant 
      overlap of manifestations including both facial characteristics and structural 
      anomalies. Based on the phenotypic overlap and the presence of a 22q11.2 deletion 
      in our patients with Opitz GBBB syndrome and the presence of a deletion in a 
      patient with lung hypoplasia, absent pulmonary artery, and long segment 
      tracheomalacia, we propose that, in some cases, the Opitz GBBB syndrome may be 
      due to a 22q11.2 deletion. This enlarges the list of "syndromes" associated with 
      the 22q11.2 deletion, which presently includes most patients with DiGeorge, 
      velocardiofacial, and conotruncal anomaly face syndrome.
FAU - McDonald-McGinn, D M
AU  - McDonald-McGinn DM
AD  - Division of Human Genetics and Molecular Biology, University of Pennsylvania 
      School of Medicine, Philadelphia, USA.
FAU - Driscoll, D A
AU  - Driscoll DA
FAU - Bason, L
AU  - Bason L
FAU - Christensen, K
AU  - Christensen K
FAU - Lynch, D
AU  - Lynch D
FAU - Sullivan, K
AU  - Sullivan K
FAU - Canning, D
AU  - Canning D
FAU - Zavod, W
AU  - Zavod W
FAU - Quinn, N
AU  - Quinn N
FAU - Rome, J
AU  - Rome J
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
CIN - Am J Med Genet. 1996 Aug 23;64(3):523-4. PMID: 8862634
MH  - Abnormalities, Multiple/*genetics
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 22
MH  - Family
MH  - Female
MH  - Gene Deletion
MH  - Genes, Dominant
MH  - Humans
MH  - Hypertelorism/*genetics
MH  - Hypospadias/*genetics
MH  - Infant
MH  - Male
MH  - Syndrome
EDAT- 1995/10/23 00:00
MHDA- 1995/10/23 00:01
CRDT- 1995/10/23 00:00
PHST- 1995/10/23 00:00 [pubmed]
PHST- 1995/10/23 00:01 [medline]
PHST- 1995/10/23 00:00 [entrez]
AID - 10.1002/ajmg.1320590122 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Oct 23;59(1):103-13. doi: 10.1002/ajmg.1320590122.