Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype
Author:
Funder
Department of Biotechnology, Government of West Bengal
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-021-03763-z.pdf
Reference12 articles.
1. Anderlid BM, Schoumans J, Hallqvist A, et al. Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet. 2003;11:89–92.
2. Le Caignec C, De Mas P, Vincent MC, et al. Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases. Am J Med Genet A. 2005;132A:175–80.
3. Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, et al. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. Eur J Med Genet. 2007;50:120–7.
4. Martinet D, Filges I, Besuchet Schmutz N, et al. Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. Am J Med Genet A. 2008;146:2094–102.
5. Linhares ND, Svartman M, Rodrigues TC, Rosenberg C, Valadares ER. Subtelomeric 6p25 deletion/duplication: report of a patient with new clinical findings and genotype-phenotype correlations. Eur J Med Genet. 2015;58:310–8.
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