De novo duplication of 7pter→p21.2 and deletion of 9pter→p23.5: clinical and cytogenetic diagnosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1997.tb02416.x/fullpdf
Reference25 articles.
1. Deletion 9p and sex reversal;Bennett;J Med Genet,1993
2. Nonketotic hyperglycinemia in a patient with the 9p-syndrome;Burton;Am J Med Genet,1989
3. Cytogenetic and molecular analysis of an unbalanced translocation (X;7)(q28;p15) in a dysmorphic girl;Caiulo;Hum Genet,1989
4. Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(pll;pll);Carnevale;Clin Genet,1978
5. De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2);Debiec-Rychter;Am J Med Genet,1990
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1. Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype;Open Life Sciences;2022-01-01
2. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism;American Journal of Medical Genetics Part A;2013-07-03
3. De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation;Molecular Cytogenetics;2011-10-03
4. Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family;The Indian Journal of Pediatrics;2008-06-21
5. Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p;Annales de Génétique;2003-01
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