Goldenhar syndrome phenotypes and 22q11 deletion
✍ Scribed by Sevim Balcı; Özlem Engiz
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 58 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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📜 SIMILAR VOLUMES
The authors report that in the caption to Figure 1, the fourth sentence should have read ''The trigon of the right lateral ventricle is enlarged.'' The authors regret the error.
22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age ≥18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22
## Abstract Chromosome‐specific low copy repeats (LCRs) are implicated in several clinically significant microdeletion and microduplication syndromes. The well‐recognized phenotype of DiGeorge/velocardiofacial syndrome (DG/VCF) results from deletions of the long arm of chromosome 22 (22q11.2) media
Letter to the Editor ## Opitz GBBB Syndrome and the 22q11.2 Deletion To the Editor: Recently, McDonald-McGinn et al. [1995] reported the presence of a deletion 22q11.2 in a family with autosomal dominant inheritance and in a sporadic case with the Opitz GBBB syndrome.The presence of a vascular r