Autosomal dominant {open_quotes}Opitz{close_quotes} GBBB syndrome due to a 22q11.2 deletion
Journal Article
·
· American Journal of Medical Genetics
- Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)
The classification of Opitz GBBB syndrome has been associated with the deletion of the DiGeorge chromosome region on human chromosome 22q11.2. The broad phenotype involved in this deletion syndrome has been referred to as the DiGeorge/velocardiofacial syndrome. The clinical description of the patient will influence the diagnosis of the syndrome. More cooperation between the clinicians and the molecular researchers is necessary in order to locate the gene(s) for these disorders. 11 refs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 539409
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 64; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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