Literature DB >> 468255

Isodicentric X chromosome in a woman with characteristics of gonadal dysgenesis.

Z Laća, M Ivanović, V Dramusić, S Morić-Petrović.   

Abstract

This paper presents a female patient with primary amenorrhea in whose karyotype an aberrant X chromosome was present. The chromosome resulted from the fusion of two X chromosomes at distal parts of the long arm and from the loss of the segment q24 leads to qter. The clinical and cytogenetic picture is compared with that of patients with the same aberration reported by other authors.

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Year:  1979        PMID： 468255     DOI： 10.1007/bf00277649

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


  6 in total

1.  Fusion of two apparently intact human X chromosomes.

Authors:  A K Sinha; S Pathak; J J Nora
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

2.  Apparently isodicentric but functionally monocentric X chromosome in man.

Authors:  E Therman; G E Sarto; K Patau
Journal:  Am J Hum Genet       Date:  1974-01       Impact factor: 11.025

3.  [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].

Authors:  B Dutrillaux; C Laurent; J Couturier; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1973-06-13

4.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

5.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

6.  X-X translocation in a patient with gonadal dysgenesis and the problems of phenotype-karyotype correlations.

Authors:  G G Mirzayants; L I Baranovskaya
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132
  6 in total
  7 in total

Review 1.  Three patients with a 45,X/46,X,psu dic(Xp) karyotype.

Authors:  P Dalton; B Coppin; R James; D Skuse; P Jacobs
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

2.  A female with isodicentric X chromosome idic (Xq) associated with ovarian dysgenesis.

Authors:  F J Sheth; U Radhakrishna; A S Multani; V C Shah; N J Chinoy
Journal:  Indian J Pediatr       Date:  1994 Mar-Apr       Impact factor: 1.967

3.  Structural anomalies of the X chromosome and inactivation center.

Authors:  M G Mattei; J F Mattei; I Vidal; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations.

Authors:  M Ferraro; A De Capoa; C Mostacci; F Pelliccia; P Zulli; M A Baldini; Q Di Nisio
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318

5.  Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.

Authors:  M Varella-Garcia; E H Tajara; A R Gagliardi
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

6.  Three related centromere proteins are absent from the inactive centromere of a stable isodicentric chromosome.

Authors:  W C Earnshaw; B R Migeon
Journal:  Chromosoma       Date:  1985       Impact factor: 4.316

7.  Kinetics of DNA replication in a dicentric X chromosome formed by long arm to long arm fusion.

Authors:  C W Yu; H Chen; J Morrison
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  7 in total

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