Literature DB >> 1809234

Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report.

R A Pfeiffer1, U Trautmann, R Hirmer-Stoll.   

Abstract

In a mentally retarded female an interstitial deletion of a chromosome 9 and an additional ring chromosome was shown, which by positive hybridisation with a no 9 library was considered to be the excised segment. The functional centromere and C and DA/DAPI positive material as well on the ring chromosome are explained by a break within the centromere close to the constitutive heterochromatin and supports the hypothesis of "latent" centromere(s).

Entities:  

Mesh：

Year:  1991        PMID： 1809234

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  4 in total

1.  Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22.

Authors:  R D Burnside; J Ibrahim; C Flora; S Schwartz; J H Tepperberg; P R Papenhausen; P E Warburton
Journal:  Cytogenet Genome Res       Date:  2011-01-06       Impact factor: 1.636

2.  Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.

Authors:  Erin L Baldwin; Lorraine F May; April N Justice; Christa L Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

3.  Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

Authors:  C Stavropoulou; C Mignon; B Delobel; A Moncla; D Depetris; M F Croquette; M G Mattei
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

4.  Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier.

Authors:  Anna Mantzouratou; Anastasia Mania; Marianna Apergi; Sarah Laver; Paul Serhal; Jda Delhanty
Journal:  Mol Cytogenet       Date:  2009-01-23       Impact factor: 2.009
  4 in total

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