Literature DB >> 2051458

A new case of proximal 10q partial trisomy.

M I de Michelena1, P J Campos.   

Abstract

We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for the delineation of this entity as a specific, clinically recognisable syndrome.

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Year:  1991        PMID： 2051458      PMCID： PMC1016807          DOI： 10.1136/jmg.28.3.205

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  2 in total

1.  Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations.

Authors:  W Vogel; E Back; W Imm
Journal:  Clin Genet       Date:  1978-02       Impact factor: 4.438

2.  Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity.

Authors:  J P Fryns; A Kleczkowska; L Igodt-Ameye; H Van den Berghe
Journal:  Clin Genet       Date:  1987-07       Impact factor: 4.438
  2 in total
  4 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.  Further delineation of the partial proximal trisomy 10q syndrome.

Authors:  C M Aalfs; J M Hoovers; M A Nieste-Otter; M M Mannens; R C Hennekam; N J Leschot
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

3.  Clinical expression of an inherited unbalanced translocation in chromosome 6.

Authors:  Bani Bandana Ganguly; Vijay Kadam; Nitin N Kadam
Journal:  Case Rep Genet       Date:  2011-09-25

4.  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
  4 in total

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