Literature DB >> 18031353

Partial proximal 10q trisomy: a new case associated with biliary atresia.

Philippe A Lysy1, Catherine Sibille, Yves Gillerot, Françoise Smets, Etienne M Sokal.   

Abstract

Herein we describe a unique case of partial proximal 10q trisomy presenting biliary atresia, anal anteposition and cardiac malformation. The 10q duplication was confirmed by G banding on prophase chromosomes. A review of the literature confirmed that the patient displayed characteristic dysmorphic features of the recently defined partial proximal trisomy 10q syndrome and emphasized the interindividual variability of visceral malformations.

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Year:  2007        PMID： 18031353     DOI： 10.1111/j.2007.0018-0661.02032.x

Source DB:  PubMed          Journal:  Hereditas        ISSN： 0018-0661            Impact factor:   3.271


  2 in total

1.  The use of array-CGH in a cohort of Greek children with developmental delay.

Authors:  Emmanouil Manolakos; Annalisa Vetro; Konstantinos Kefalas; Stamatia-Maria Rapti; Eirini Louizou; Antonios Garas; George Kitsos; Lefteris Vasileiadis; Panagiota Tsoplou; Makarios Eleftheriades; Panagiotis Peitsidis; Sandro Orru; Thomas Liehr; Michael B Petersen; Loretta Thomaidis
Journal:  Mol Cytogenet       Date:  2010-11-09       Impact factor: 2.009

2.  Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature.

Authors:  Emmanouil Manolakos; Annalisa Vetro; Antonios Garas; Loretta Thomaidis; Konstantinos Kefalas; George Kitsos; Monika Ziegler; Thomas Liehr; Orsetta Zuffardi; Ioannis Papoulidis
Journal:  Exp Ther Med       Date:  2014-02-06       Impact factor: 2.447
  2 in total

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