Literature DB >> 885556

Ring chromosome 9. 46,XY,r(9) in a male with ambiguous external genitalia.

C Metaxotou, A Kalpini-Mavrou.   

Abstract

Cytogenetic investigation of a 4-year-old boy with ambiguous external genitalia revealed a 46,XY,r(9)(p2q3) complement. The patient displayed some phenotypic characteristics common to other reported r(9) cases, in addition to ambiguous external genitalia.

Entities:  

Mesh：

Year:  1977        PMID： 885556     DOI： 10.1007/bf00393619

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


  5 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.  [A case of annular chromosome 9. Indentification by controlled denaturation].

Authors:  J Fraisse; B Lauras; M J Ooghe; F Freycon; M O Rethoré
Journal:  Ann Genet       Date:  1974-09

5.  A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl.

Authors:  P Jacobsen; M Mikkelsen; F Rosleff
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438
  5 in total
  2 in total

1.  A ring chromosome 9 in an infant with malformations.

Authors:  T Inouye; H Matsuda; K Shimura; M Hamazaki; I Kikuta; K Iinuma; Y Nakagome
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

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

Authors:  J P Fryns; A Lambrechts; H Jansseune; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132
  2 in total

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