Literature DB >> 7424520

Partial duplication of the long arm of chromosome 22 (22q 13) with complete 22 trisomy phenotype.

J P Fryns, D De Backer, L Lemli, J C Pedersen, H Van den Berghe.   

Abstract

Mesh：

Year:  1980        PMID： 7424520

Source DB:  PubMed          Journal:  Acta Paediatr Belg        ISSN： 0001-6535


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  2 in total

1.  22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum.

Authors:  Anikó Ujfalusi; Orsolya Nagy; Beáta Bessenyei; Györgyi Lente; Irén Kántor; Ádám J Borbély; Katalin Szakszon
Journal:  Mol Syndromol       Date:  2020-04-04

2.  SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Authors:  Chiara Magri; Eleonora Marchina; Valeria Bertini; Michele Traversa; Giulia Savio; Alba Pilotta; Giovanna Piovani
Journal:  BMC Med Genet       Date:  2015-07-07       Impact factor: 2.103
  2 in total

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