Literature DB >> 12381444

A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea.

S Calvano1, G P de Cillis, A I Croce, G Perla, A Notarangelo, L Zelante.   

Abstract

A complex mosaicism involving the X chromosome was found in a 35-year-old female affected by secondary amenorrhea and short stature. Her karyotype was: 45,X[20]/46,X,del(X)(pter-->q26::qter)[15]/46,X,idic(X)(pter-->q26::q26-->pter)[9]. No cell contained both abnormal X chromosomes. This observation would suggest a possible mechanism underlying the formation of isodicentric chromosomes.

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Year:  2002        PMID: 12381444     DOI: 10.1016/s0003-3995(02)01121-8

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


  1 in total

1.  Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?

Authors:  Maria Yiu; Zhongxia Qi; Anita Ki; Jingwei Yu
Journal:  Mol Cytogenet       Date:  2015-07-25       Impact factor: 2.009

  1 in total

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