Literature DB >> 10214506

De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.

L Correa-Cerro1, D Garcia-Cruz, M X Ruiz, J Sanchez-Corona.   

Abstract

A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting.

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Year:  1999        PMID： 10214506

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  1 in total

1.  A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review.

Authors:  Francesca Parissone; Mairi Pucci; Emanuela Meneghelli; Orsetta Zuffardi; Rossana Di Paola; Stefano Zaffagnini; Massimo Franchi; Elisabetta Santangelo; Gaetano Cantalupo; Paolo Cavarzere; Franco Antoniazzi; Giorgio Piacentini; Rossella Gaudino
Journal:  Int J Pediatr Endocrinol       Date:  2020-01-09
  1 in total

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