Literature DB >> 7468662

Ring chromosome 2 in a child with growth failure and few congenital abnormalities.

N V Vigfusson, K J Kapstafer, M A Lloyd.   

Abstract

A ring chromosome 2 mosaic [46,XX/46,XX,r(2)(p25q37)] was found in a newborn female with severe intrauterine growth retardation (IUGR), postnatal growth failure, and a few minor abnormalities. Psychomotor development has been normal to 19 months old. A ring chromosome 2 is present in 77.8% of the nuclei examined and is not found in the parents or a sibling. G- and R-banding reveal the break points to be p25q37. The presence of a normal cell line indicates that the chromosome abnormality arose after conception.

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Year:  1980        PMID: 7468662     DOI: 10.1002/ajmg.1320070321

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Ring chromosome 2: clinical, chromosomal, and biochemical aspects.

Authors:  M Jansen; F A Beemer; C van der Heiden; J O Van Hemel; J L Van den Brande
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

Review 2.  Distribution of break points in human structural rearrangements.

Authors:  Y Nakagome; T Matsubara; H Fujita
Journal:  Am J Hum Genet       Date:  1983-03       Impact factor: 11.025

3.  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

  3 in total

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