We report on a 4-month-old boy with a de novo interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and clinical findings typical of proximal 3p deletion together with coloboma of iris, heart defect, choanal atresia, retardation of growth and development, genital hypoplas
β¦ LIBER β¦
P08.4 Large interstitial deletion of the short arm of chromosome 3 (3p12.3-p14.1): report of MITF haploinsufficiency non resulting in Waardenburg 2a phenotype
β Scribed by A. Monier; C. Vilain; B. Grisart; H. Dessy; A. Aeby; B. Dan
- Book ID
- 114360467
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 36 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1090-3798
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## Abstract Greig cephalopolysyndactyly (GCPS; OMIM 175700) is an autosomal dominant condition caused by mutations of the gene __GLI3__, located on 7p13. To date, several cases of deletions and/or translocations involving this locus have been reported in patients with GCPS. __GLI3__ is a transcript