What`s in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial and conotruncal anomalies face syndromes
Journal Article
·
· American Journal of Medical Genetics
DOI:https://doi.org/10.1002/(SICI)1096-8628(19961111)65:4<317::AID-AJMG13>3.0.CO;2-X·
OSTI ID:508243
- Univ. of Maryland School of Medicine, Baltimore, MD (United States)
- Universita Cattolica, Rome (Italy)
The recent advances in our understanding of the phenotype associated with deletion of the DiGeorge Chromosome Region (DGCR) at 22q11.2 are in many ways analogous to the fable about the blind men and the elephant. Originally described as three distinct phenotypes (DiGeorge (DG) syndrome, velocardiofacial (VCF) syndrome, and the conotruncal anomalies face (CTAF) syndrome), it is now clear that there is only a single broad and variable phenotype associated with deletion of the DGCR. As in the fable, distinguished clinicians approached this phenotypic {open_quotes}elephant{close_quotes} from different perspectives and provided three separate, although overlapping descriptions. Our analogy to this fable is not to imply some {open_quotes}blindness{close_quotes} on the part of these clinicians, but rather to point out the well-known difficulty in delineating the indistinct phenotypic boundaries of a syndrome until a genetic or biochemical marker for the condition is available. The recent availability of a fluorescent in situ hybridization (FISH) probe to detect deletion of the DGCR now allows delineation of the broad phenotype of our {open_quotes}elephant{close_quotes} which spans from lethal DG phenotypes through the intermediate VCF and CTAF phenotypes to the newly recognized {open_quotes}mild{close_quotes} phenotype consisting of only developmental delays and subtle facial abnormalities. 33 refs.
- OSTI ID:
- 508243
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 65; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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