Literature DB >> 2189730

Ring chromosome 7: report of the fifth case.

G M Caramia1, A Baroncini, P Osimani, A Forabosco.   

Abstract

A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.

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Mesh：

Year:  1990        PMID： 2189730     DOI： 10.1007/bf01959398

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  7 in total

1.  A ring C7 chromosome in a mentally and physically retarded male with various somatic abnormalities.

Authors:  S Nakano; N Miyamoto
Journal:  Jinrui Idengaku Zasshi       Date:  1977-06

2.  Chromosome 7 short arm deletion, 7p21----pter.

Authors:  M Schömig-Spingler; M Schmid; W Brosi; T Grimm
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

3.  Cytogenetics of ring chromosome 7.

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

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

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

5.  Ring chromosome 7 with variable phenotypic expression.

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

6.  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

7.  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
  7 in total
  2 in total

1.  Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Authors:  J E Pellegrino; R E Schnur; R Kline; E H Zackai; N B Spinner
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

2.  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
  2 in total

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