Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23)
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference16 articles.
1. Chromosome imbalance, normal phenotype, and imprinting;Bortoto;J Med Genet,1990
2. A 6p trisomy detected in a family with a “giant satellite”;Chiyo;Humangenetik,1975
3. De novo “pure” partial trisomy (6)(p22.1→pter) in a chromosome 15 with an enlarged satellite, identified by microdissection;Engelen;Am J Med Genet,2001
4. Pure 6p22–pter trisomic patient: refined FISH characterization and genotype-phenotype correlation;Giardino;Am J Med Genet,2002
5. Interstitial tandem duplication of 6p: a case with de novo partial trisomy (6)(p21.1p21.3);Karamanov;Ann Genet,2001
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1. De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism;Molecular Syndromology;2022-07-06
2. Tri-allelic expression of HLA gene in 46,XX/46,XY chimerism;Transplant Immunology;2019-04
3. Glomerulopathy in patients with distal duplication of chromosome 6p;BMC Nephrology;2016-03-21
4. Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry;Gene;2014-02
5. Familial trisomy 6p in mother and daughter;American Journal of Medical Genetics Part A;2013-05-17
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