Literature DB >> 6823605

Isodicentric X chromosome in a girl with gonadal dysgenesis.

V M Barnabei, T A Wilson, A J Johanson, H E Wyandt, T Kelly.   

Abstract

Chromosomal analysis on a 15-year-old girl with amenorrhea and lack of secondary sexual development showed a normal X chromosome and an isodicentric X chromosome, 46,X, idic(x) (pter leads to q23::q23 leads to pter). Thus the patient has duplicated and deleted X chromosome material. There was no evidence of 45,X mosaicism. Brd U-labeling revealed the abnormal X to be late-replicating.

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Year:  1983        PMID: 6823605     DOI: 10.1097/00007611-198302000-00028

Source DB:  PubMed          Journal:  South Med J        ISSN: 0038-4348            Impact factor:   0.954


  3 in total

1.  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

2.  The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Authors:  E Therman; B Susman
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

Review 3.  Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

  3 in total

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