Literature DB >> 6678317

Partial trisomy for 7p due to maternal balanced translocation.

S Ohdo, K Suzumori, H Madokoro, T Sonoda, K Hayakawa.   

Abstract

Mesh：

Year:  1983        PMID： 6678317     DOI： 10.1007/BF01876794

Source DB:  PubMed          Journal:  Jinrui Idengaku Zasshi        ISSN： 0021-5074


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  2 in total

1.  De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.

Authors:  Aswini S; Venkata O Padmalatha; Saranya G; Durgadatta T; Raseswari T; Kanakavalli M Kulashekaran; Meena J; Chandra N; Lalji S; Lakshmi R Kandukuri
Journal:  Mol Cytogenet       Date:  2011-10-03       Impact factor: 2.009

2.  New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.

Authors:  Vanessa Luiza Romanelli Tavares; Sofia Ligia Guimarães-Ramos; Yan Zhou; Cibele Masotti; Suzana Ezquina; Danielle de Paula Moreira; Henk Buermans; Renato S Freitas; Johan T Den Dunnen; Stephen R F Twigg; Maria Rita Passos-Bueno
Journal:  J Med Genet       Date:  2021-11-08       Impact factor: 5.941
  2 in total

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