Literature DB >> 10406663

Ring 2 chromosome: ten-year follow-up report.

Y Lacassie1, M I Arriaza, A Vargas, I La Motta.   

Abstract

Côté et al. [1981: Ann Genet 24:231-235] suggested that ring chromosomes without a preceding deletion share a common pattern of phenotypic anomalies, independent of what chromosome is involved. The phenotype of such a "general ring syndrome" consists of growth failure without malformations, few or no minor anomalies, and mild-to-moderate mental retardation. We report on a patient with a ring 2 chromosome with features suggestive of Silver-Russell syndrome at birth and striking postnatal growth retardation with minor intellectual involvement supporting Côté's suggestion. This would be the ninth case of ring 2 chromosome published; the patient is the longest reported survivor, with a 10-year follow-up.

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Year:  1999        PMID: 10406663     DOI: 10.1002/(sici)1096-8628(19990716)85:2<117::aid-ajmg4>3.0.co;2-o

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


  3 in total

Review 1.  Autosomal ring chromosomes in human genetic disorders.

Authors:  Moh-Ying Yip
Journal:  Transl Pediatr       Date:  2015-04

2.  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.  Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.

Authors:  Roberta S Guilherme; Vera de Fa Meloni; Sylvia S Takeno; Renata Pellegrino; Decio Brunoni; Leslie D Kulikowski; Maria I Melaragno
Journal:  J Med Case Rep       Date:  2012-09-07
  3 in total

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