Is the autosomal dominant Opitz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?
Journal Article
·
· American Journal of Medical Genetics
- Univ. of Maryland School of Medicine, Baltimore, MD (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 is usually referred to as the DiGeorge/velocardiofacial syndrome. The clinical description of the patient will influence the diagnosis of the syndrome. More exact descriptions are necessary in order to locate the gene(s) for these disorders. 13 refs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 539408
- 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
Similar Records
Autosomal dominant {open_quotes}Opitz{close_quotes} GBBB syndrome due to a 22q11.2 deletion
Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature
Opitz GBBB syndrome and the 22q11.2 deletion
Journal Article
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Fri Aug 23 00:00:00 EDT 1996
· American Journal of Medical Genetics
·
OSTI ID:539409
Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature
Journal Article
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Sun Nov 10 23:00:00 EST 1996
· American Journal of Medical Genetics
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OSTI ID:508242
Opitz GBBB syndrome and the 22q11.2 deletion
Journal Article
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Thu Mar 28 23:00:00 EST 1996
· American Journal of Medical Genetics
·
OSTI ID:427052