Clinical and cytogenetic correlations in mixed gonadal dysgenesis
نویسندگان
چکیده
منابع مشابه
Dicentric Y chromosome in mixed gonadal dysgenesis.
A 15-year-old girl was investigated because of ambiguous genitalia. Her chromosome studies showed a 45, X/45, Xdic(Yq) mosaicism. The identity of the dicentric Y chromosome was demonstrated by its typical fluorescent banding patterns. Histological evidence of mixed gonadal dysgenesis with intragonadal tumour was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in ...
متن کاملX/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 ...
متن کاملGonadal dysgenesis and ulcerative colitis. A case report with clinical, cytogenetic, and post-mortem studies.
In recent publications (Forbes and Engel, I963; Williams, Engel, and Forbes, I964) we have described the high incidence of diabetes and thyroiditis in a series of cases of gonadal dysgenesis and in their close relatives, and have pointed out that a number of diseases in which an auto-immune mechanism has been suspected have occurred in association with this chromosomal disorder. In these report...
متن کاملGonadal 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...
متن کاملPresumptive Y/D translocation in mixed gonadal dysgenesis.
One of the important findings of human cytogenetics has been the role of the Y chromosome in testicular differentiation of the bipotential embryonic gonad, but a puzzle has been posed by reports of individuals with a testis but with no apparent Y chromosome. This paper describes a patient with mixed gonadal dysgenesis (testis and streak), interpreted as having a Y/D translocation in some cells,...
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ژورنال
عنوان ژورنال: Problems of Endocrinology
سال: 1996
ISSN: 2308-1430,0375-9660
DOI: 10.14341/probl12086