22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes
✍ Scribed by Marie-France Portnoï; Fanny Lebas; Nicolas Gruchy; Azarnouche Ardalan; Valérie Biran-Mucignat; Valérie Malan; Lina Finkel; Gilles Roger; Sarah Ducrocq; Francis Gold; Jean-Louis Taillemite; Sandrine Marlin
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 112 KB
- Volume
- 137A
- Category
- Article
- ISSN
- 1552-4825
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📜 SIMILAR VOLUMES
The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 ## Mb chromosomal deletion that includes the mini
of Cases With Asymmetric Crying Face and del(22)(q11.2) Detected by FISH Age Case 1 9 years Case 2 4 weeks Case 3 3 years Case 4 24 years Case 5 e 3 years Case 6 2 weeks Case 7 Normal a VPI, velopalatal insufficiency. b DAOM: Depressor Anguli Oris Muscle. c VSD, ventricular septal defect. d All show