A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea |
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| Authors: | Calvano S de Cillis G P Croce A I Perla G Notarangelo A Zelante L |
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| Affiliation: | Medical Genetics Service, IRCCS-CSS Hospital, San Giovanni Rotondo (Fg), Italy. |
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| 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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| Keywords: | Complex gonosomes mosaicism Turner syndrome X structural abnormalities |
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