Literature DB >> 468257

Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9.

J P Fryns, A Lambrechts, H Jansseune, H Van den Berghe.   

Abstract

A ring chromosome 9 is reported in a 12-year-old, moderately mentally retarded boy. As in other ring chromosome 9 patients, the clinical stigmata are nonspecific and their expressivity is mild. The finding of two normal cells of a total of 121 cells examined favors the hypothesis of a postzygotic, mitotic origin of the ring chromosome formation.

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Mesh：

Year:  1979        PMID： 468257     DOI： 10.1007/bf00295585

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  Irregular phenotypic expression of ring chromosomes.

Authors:  R Zdansky; M Andrle; E Bühler; T Tsuchimoto; W R Mayr; A Rett
Journal:  Humangenetik       Date:  1975

2.  A ring 9 chromosome. Repository identification no. GM-166.

Authors:  M L Kistenmacher; H H Punnett; M Aronson; R C Miller; A E Greene; L L Coriell
Journal:  Cytogenet Cell Genet       Date:  1975

3.  Mental retardation and congenital malformations associated with a ring chromosome 9.

Authors:  S Nakajima; M Yanagisawa; S Kamoshita; Y Nakagome
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

4.  [Ring chromosome 6. Karotype 46, XY, r (6)-45, XY,-6].

Authors:  H Van den Berghe; J P Fryns; J J Cassiman; G David
Journal:  Ann Genet       Date:  1974-03

5.  A chromosomal break and partial deletion of a number 9 chromosome.

Authors:  G F Smith; S Sachdeva; P Justice
Journal:  Hum Hered       Date:  1973       Impact factor: 0.444

6.  A group-C ring chromosome in a mentally deficient male.

Authors:  A J Therkelsen; B Moller; K Henningsen
Journal:  J Med Genet       Date:  1971-06       Impact factor: 6.318

7.  [Ring 6-chromosome: a nonspecific clinical picture].

Authors:  B Sele; A Joannard; P Jalbert; J Boucharlat
Journal:  Ann Genet       Date:  1977-12

8.  46,XX/46,XX,r(15) mosaiciam: report of a case.

Authors:  R A Pfeiffer; R Dhadial; W Lenz
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

9.  Partial monosomy of the short arm of chromosome 9: a distinct clinical entity.

Authors:  J Deroover; J P Fryns; C Parloir; J Haegeman; H van den Berghe
Journal:  Hum Genet       Date:  1978-10-31       Impact factor: 4.132

10.  Two cases with a C-group ring autosome.

Authors:  L Atkins; S S Pant; G W Hazard; E M Ouellette
Journal:  Ann Hum Genet       Date:  1966-07       Impact factor: 1.670
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  1 in total

1.  Ring chromosome 9 in a dysmorphic child.

Authors:  Jayesh Sheth; Rajesh Joshi; Frenny Sheth
Journal:  Indian J Pediatr       Date:  2007-05       Impact factor: 5.319
  1 in total

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