Dicentric Y chromosome in mixed gonadal dysgenesis.
نویسندگان
چکیده
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 which at least one cell bears a Y chromosome.
منابع مشابه
A male pseudohermaphrodite with a dicentric Y chromosome. Autoradiographic study.
A 13-year-old male pseudohermaphrodite (mixed gonadal dysgenesis, unilateral testicular differentiation) was found to be a chromosomal mosaic of the 45, X0/46, XY type, the Y chromosome being a symmetrical dicentric chromosome. Presumed ¥ chromosomes similar to this one have been observed before, but their identification was not supported by autoradiographic data. In the present study the ident...
متن کاملAmbiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24).
We describe here a 3-month-old male infant with brachy-plagyocephaly, short neck, widely spaced nipples, mild hypertonia, and ambiguous external genitalia but with both testes in the scrotum and no Müllerian derivates. His karyotype was 45,X,der(Y;9)(q12;p24).ish der(Y;9)(DYZ3+,SRY+,9ptel-) de novo. This patient's impaired sex differentiation is consistent with gonadal dysgenesis and compares w...
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,...
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 کاملMixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome.
Mixed gonadal dysgenesis is a rare disorder of sex development associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is characterized by a unilateral non-palpable (usually intra-abdominal) testis, a contralateral streak gonad and persistent mullerian structures. The clinical presentation can vary from a typical male to female phenotype including all degrees of cryptorc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 12 2 شماره
صفحات -
تاریخ انتشار 1975