Genotype/phenotype analysis in a patient with pure and complete trisomy 12p
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference14 articles.
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2. Bielanska MM Khalifa MM Duncan AMW 1996 Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype 65 104 108
3. High resolution multicolor-banding: A new technique for refined FISH analysis of human chromosomes;Chudoba;Cytogenet Cell Genet,1999
4. Microdissection based high resolution multicolor banding for all 24 human chromosomes;Liehr;Int J Mol Med,2002
5. Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3;Pfeiffer;Ann Genet,1992
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1. Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay;Genetics and Molecular Biology;2020
2. Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear;Molecular Cytogenetics;2016-05-03
3. Prenatally identified Pallister–Killian syndrome: Ultrasound pattern and diagnostic considerations;Journal of Obstetrics and Gynaecology;2015-10-15
4. Nonmosaic partial duplication 12p;Medical Research Journal;2014-12
5. Report on 3 patients with 12p duplication including GRIN2B;European Journal of Medical Genetics;2014-04
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