Literature DB >> 3502695

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

J P Fryns, A Kleczkowska, L Igodt-Ameye, H Van den Berghe.   

Abstract

This report summarizes the clinical and cytogenetic findings in a 16-year-old moderately mentally retarded girl with 10q11.2----10q22 duplication. The phenotypic findings are identical to those found in one other patient with the same autosomal duplication. These data suggest that proximal 10q11.2-10q22 duplication is associated with a specific clinically recognizable syndrome.

Entities:  

Mesh：

Year:  1987        PMID： 3502695     DOI： 10.1111/j.1399-0004.1987.tb03325.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR).

Authors:  J Garcia-Heras; J A Martin; S F Witchel; P Scacheri
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  A new case of proximal 10q partial trisomy.

Authors:  M I de Michelena; P J Campos
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

3.  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

4.  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

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.