Literature DB >> 12558111

Partial proximal trisomy 10q syndrome: a new case.

A Nucaro1, A Faedda, A Cao, L Boccone.   

Abstract

We report a case of partial proximal trisomy of the long arm of chromosome 10 confirmed by fluorescence in situ hibridization (FISH) performed with whole chromosome 10 specific painting and specific yac clones. The phenotypic findings, compared to those found in other published cases with the same karyotype, support the recognition of a distinctive partial proximal trisomy 10q syndrome (10q11-->q22).

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Mesh：

Year:  2002        PMID： 12558111

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  3 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.  Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH.

Authors:  Anila Babameto-Laku; Dorina Roko; Gentian Vyshka
Journal:  Open Access Maced J Med Sci       Date:  2017-07-27

3.  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
  3 in total

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