A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1997.tb02515.x/fullpdf
Reference24 articles.
1. Schinzel AA. Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age;Antonarakis;Nat Genet,1993
2. et al. Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18;Boghosian;Am J Hum Genet,1994
3. et al. Simple repetitive sequences in the genome: structure and functional significance;Brahmachari;Electrophoresis,1995
4. Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS);Brandt;J Med Genet,1994
5. Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13. 18, and 21;Devilee;Cytogenet Cell Genet,1986
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2. The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18;Journal of Anatomy;2015-08-17
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