Literature DB >> 7241547

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

M Varella-Garcia, E H Tajara, A R Gagliardi.   

Abstract

An 18-year-old female with some stigmata of pure dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter leads to q27: :q21 leads to qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and some problems of karyotype-phenotype correlation are discussed.

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Year:  1981        PMID： 7241547      PMCID： PMC1048711          DOI： 10.1136/jmg.18.3.228

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Deletion mapping of the human X chromosome.

Authors:  A de la Chapelle; J Schröder; T Haahtela; P Aro
Journal:  Hereditas       Date:  1975       Impact factor: 3.271

2.  Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea.

Authors:  J P Phelan; R T Upton; R L Summitt
Journal:  Am J Obstet Gynecol       Date:  1977-11-15       Impact factor: 8.661

3.  A case of 46,X,t(X;X)(pter to q27::q27 to pter)/47,X,t(X;X) (pter to q27::q27 to pter), + mar/48,XX,t(X;X)(pter to q27::q27 to pter), + mar and a functionally monocentric translocation X.

Authors:  J Nielsen; A Homma; F Christiansen; K Rasmussen; P Saldsña-Garcia
Journal:  Ann Genet       Date:  1977-06

4.  Evidence for X-X chromosome translocation in humans.

Authors:  A K Sinha; J J Nora
Journal:  Ann Hum Genet       Date:  1969-10       Impact factor: 1.670

5.  A possible active segment on the inactive human X chromosome.

Authors:  E Therman; G E Sarto; C Distèche; C Denniston
Journal:  Chromosoma       Date:  1976-12-16       Impact factor: 4.316

6.  Replication patterns of three isodicentric X chromosomes and an X isochromosome in human lymphocytes.

Authors:  G Dewald; J L Spurbeck; H Gordon
Journal:  Am J Med Genet       Date:  1978

7.  X inactivation in man: a woman with t(Xq--;12q+).

Authors:  G E Sarto; E Therman; K Patau
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

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

Authors:  Z Laća; M Ivanović; V Dramusić; S Morić-Petrović
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

9.  Position of the human X inactivation center on Xq.

Authors:  E Therman; G E Sarto; C G Palmer; H Kallio; C Denniston
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

10.  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
  10 in total
  2 in total

1.  Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies.

Authors:  M Schmidt; D Du Sart; P Kalitsis; M Leversha; S Dale; L Sheffield; D Toniolo
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

2.  Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.

Authors:  S Schwartz; M F Schwartz; S R Panny; C J Peterson; E Waters; M M Cohen
Journal:  Am J Hum Genet       Date:  1986-05       Impact factor: 11.025
  2 in total

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