Double segment chromosomal imbalance due to inherited chromosomal translocation: Detection by cytogenetic microarray
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s13312-017-1154-7.pdf
Reference6 articles.
1. Tilak P. Effect of reciprocal translocations on phenotypic Abnormalities. Int J Hum Genet. 2010;10:113–9.
2. Nicolini U, Lalatta F, Natacci F, Curcio C, Bui TH. The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration. Hum Reprod Update. 2004;10:541–8.
3. Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, et al. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. 1999;8:2479–88.
4. Shao L, Shaw AC, Lu XY, Sahoo T, Carlos AB, Lalani SR, et al. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008;146:2242–51
5. Petriczko E, Biczysko-Mokosa A, Bogdanowicz J, Constantinou M, Zdziennicka E, Horodnicka-Jozwa A, et al. Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features. Am J Med Genet A. 2012;158:1442–6.
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