Ovarian Dysgenesis in an Alpaca with a Minute Chromosome 36
نویسندگان
چکیده
منابع مشابه
Mixed 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...
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In primary lymphoedema, lymphangiography has revealed abnormalities ofthe lymphatics. Kinmonth (1960), in a series of 192 patients, found hypoplasia of the lymphatic trunks in 65%, aplasia in 15%, varicose dilatation in 14 %, and backflow of dye into the lymphatic dermal plexus in 6 %. These findings suggested that primary lymphoedema was due to congenital error in the development of lymphatics...
متن کاملPrimary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality.
This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qter-p13.3::p13.3-p12.3:)dn.ish inv dup del(12)(TEL-ETV6++) which produced the phenotype of a female with primary ovarian failure and subsequent osteopenia in early adult life. This warranted treatment with oestrogen replacement therapy and close supportive monitoring.
متن کاملDicentric 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 کاملGynaecography in premature ovarian failure and ovarian dysgenesis.
Gynaecography-the radiological visualization of the internal female genitalia after pneumoperitoneum-is a safe and simple procedure. When taken in conjunction with the clinical and laboratory findings the results of gynaecography are often a sufficient basis for diagnosis and a plan of management in women presenting with menstrual irregularity or infertility.
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ژورنال
عنوان ژورنال: Journal of Heredity
سال: 2012
ISSN: 0022-1503,1465-7333
DOI: 10.1093/jhered/ess069