Literature DB >> 7401133

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.

N J Carpenter, B Say, D Browning.   

Abstract

A patient with primary amenorrhoea and absence of secondary sex characteristics was found to have a balanced X;3 translocation. This phenotype is reported in approximately one-third of the balanced X;autosome translocation cases. The normal X chromosome is inactive in the present case which is in agreement with most of the similar cases. A review of the 66 balanced X;autosome translocations reported to date is presented.

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Year:  1980        PMID： 7401133      PMCID： PMC1048550          DOI： 10.1136/jmg.17.3.216

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


  33 in total

1.  Banding patterns and autoradiographic studies of cells with an X-autosome translocation.

Authors:  M Lucas; A Smithies
Journal:  Ann Hum Genet       Date:  1973-07       Impact factor: 1.670

2.  Retinoblastoma and D-chromosome deletions.

Authors:  M G Wilson; J W Towner; A Fujimoto
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

3.  Cytogenetic and clinical study on 100 cases of primary amenorrhoea.

Authors:  H Kallio
Journal:  Acta Obstet Gynecol Scand Suppl       Date:  1973

4.  Letter: A case of primary amenorrhea associated with X-autosomal translocation (46,X,t(Xq minus;5q plus)).

Authors:  J D Mann; J Higgins
Journal:  Am J Hum Genet       Date:  1974-05       Impact factor: 11.025

5.  Two human X-autosome translocations identified by autoradiography and fluorescence.

Authors:  M M Cohen; C C Lin; V Sybert; E J Orecchio
Journal:  Am J Hum Genet       Date:  1972-09       Impact factor: 11.025

6.  Multiple abnormalities due to possible genetic inactivation in an X-autosome translocation.

Authors:  T H Thelen; D J Abrams; R O Fisch
Journal:  Am J Hum Genet       Date:  1971-07       Impact factor: 11.025

7.  An inherited X-autosome translocation in man.

Authors:  K E Buckton; P A Jacobs; L A Rae; M S Newton; R Sanger
Journal:  Ann Hum Genet       Date:  1971-10       Impact factor: 1.670

8.  Possible X-autosomal translocation in a girl with gonadal dysgenesis.

Authors:  M J Thorburn; P A Martin; U N Pathak
Journal:  J Med Genet       Date:  1970-12       Impact factor: 6.318

9.  [Sterility and familial t (1q-;Xq+) translocation].

Authors:  B Dutrillaux; J Couturier; J Rotman; J Salat; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1972-06-12

10.  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
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  14 in total

Review 1.  The critical region on the human Xq.

Authors:  E Therman; R Laxova; B Susman
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Chromosome abnormalities in pupils attending ESN/M schools.

Authors:  M A Lamont; N R Dennis; M Seabright
Journal:  Arch Dis Child       Date:  1986-03       Impact factor: 3.791

3.  X chromosome replication patterns in a case of X;9 balanced translocation.

Authors:  G Filippi; V Pecile; N Archidiacono; E Baragino; G Auber; M Rocchi
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

4.  Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation.

Authors:  B Hellkuhl; A de la Chapelle; K H Grzeschik
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

Authors:  M M Cohen; J Charrow; N E Balkin; C J Harris
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

6.  Inactivation centers in the human X chromosome.

Authors:  Y Nakagome
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

7.  Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

Authors:  P A Jacobs; P A Hunt; M Mayer; R D Bart
Journal:  Am J Hum Genet       Date:  1981-07       Impact factor: 11.025

8.  X-autosome translocations: cytogenetic characteristics and their consequences.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

9.  Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

Authors:  M Zatz; A M Vianna-Morgante; P Campos; A J Diament
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

10.  X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes.

Authors:  C M Disteche; K Swisshelm; S Forbes; R A Pagon
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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