Hemoptysis: A rare presentation of mixed gonadal dysgenesis

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the evaluation and presentation of a rare case of gonadal dysgenesis

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Dicentric Y chromosome in mixed gonadal dysgenesis.

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X/XYq - mosaicism and mixed gonadal dysgenesis.

A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the ...

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Gonadal dysgenesis

Disorders of sex development (DSD), previously referred to as intersex disorders, comprise a variety of congenital diseases with anomalies of the sex chromosome, the gonads, the reproductive ducts and the genitalia. DSD is loosely classified into four groups on the basis of histological features of the gonadal tissue: XX-DSD with two ovaries (female pseudohermaphroditism), XY-DSD with two testi...

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ژورنال

عنوان ژورنال: Journal of Human Reproductive Sciences

سال: 2020

ISSN: 0974-1208

DOI: 10.4103/jhrs.jhrs_51_20