Literature DB >> 2395166

Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.

C P Koiffmann1, A Diament, D H de Souza, A Wajntal.   

Abstract

A 39 year old male with multiple dysmorphic features was found to have an unstable ring chromosome 7. Clinical findings are presented and compared with the other five reported cases of ring chromosome 7. The main characteristics found in patients with this chromosome constitution are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital anomalies.

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Mesh：

Year:  1990        PMID： 2395166      PMCID： PMC1017186          DOI： 10.1136/jmg.27.7.462

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


  6 in total

1.  Ring chromosome 11 and café-au-lait spots.

Authors:  K Fagan; G K Suthers; G Hardacre
Journal:  Am J Med Genet       Date:  1988-08

2.  Cytogenetics of ring chromosome 7.

Authors:  C D DeLozier-Blanchet; R Guenin
Journal:  Clin Genet       Date:  1984-01       Impact factor: 4.438

3.  The cytogenetic and clinical implications of a ring chromosome 2.

Authors:  G B Cote; A Katsantoni; D Deligeorgis
Journal:  Ann Genet       Date:  1981

4.  Ring chromosome 7 with variable phenotypic expression.

Authors:  E H Zackai; W R Breg
Journal:  Cytogenet Cell Genet       Date:  1973

5.  Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome.

Authors:  G Kosztolányi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

6.  A fourth case of ring chromosome 7.

Authors:  C D DeLozier; G Theintz; P Sizonenko; E Engel
Journal:  Clin Genet       Date:  1982-08       Impact factor: 4.438
  6 in total
  1 in total

1.  Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.

Authors:  Li-Ping Tsai; Kuei-Fang Lee; Jye-Siung Fang; Ingrid Y Liu
Journal:  Mol Cytogenet       Date:  2011-02-08       Impact factor: 2.009
  1 in total

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