Literature DB >> 11546833

A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH.

S L Dee, A T Clark, L R Willatt, J R Yates.   

Abstract

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Year:  2001        PMID： 11546833      PMCID： PMC1734942          DOI： 10.1136/jmg.38.9.e32

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


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  2 in total

1.  Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

Authors:  Mariasavina Severino; Andrea Accogli; Giorgio Gimelli; Andrea Rossi; Svetlana Kotzeva; Maja Di Rocco; Patrizia Ronchetto; Cristina Cuoco; Elisa Tassano
Journal:  Mol Cytogenet       Date:  2015-03-05       Impact factor: 2.009

2.  A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.

Authors:  Maria Clara Bonaglia; Roberto Giorda; Sergio Zanini
Journal:  Mol Cytogenet       Date:  2014-08-05       Impact factor: 2.009
  2 in total

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