Literature DB >> 11174634

Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome.

G Binder1, T Eggermann, H Enders, M B Ranke, A Dufke.   

Abstract

Genetic analysis in a tall 14-year-old girl with gonadal dysgenesis and some stigmata of Turner's syndrome revealed a duplication of the short arm in a monocentric X chromosome with partial loss of Xq. We suggest that triple gene dosage of SHOX and estrogen deficiency caused the unique overgrowth.

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Year:  2001        PMID: 11174634     DOI: 10.1067/mpd.2001.110277

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  2 in total

1.  Acromegaloidism with normal growth hormone secretion associated with X-tetrasomy.

Authors:  Paula Alvarez-Vázquez; Alberto Rivera; Irene Figueroa; Concepción Páramo; Ricardo V García-Mayor
Journal:  Pituitary       Date:  2006       Impact factor: 4.107

2.  Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea.

Authors:  Zahra Razavi; Hossein Emad Momtaz
Journal:  Iran J Med Sci       Date:  2017-03
  2 in total

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