Cases reported "Chromosome Disorders"

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1/2. Minute y chromosome derived marker in a child with gonadoblastoma: cytogenetic and dna studies.

    A 12 year old girl referred for chromosome analysis because of short stature was found to have karyotype mos 45,X/46,X, mar. The marker chromosome was observed in 58% of her blood lymphocytes. It was a small, pale staining, spherical fragment with GTL banding and showed faint differentiation along its length with CBG banding. dna analysis using Y specific probes showed the absence of the testicular determining region and the presence of some short arm and centromeric Y chromosomal material. In situ hybridisation confirmed that the Y chromosomal material was associated with the marker chromosome. At laparotomy the patient was found to have streak gonads. Gonadectomy was subsequently performed and histological examination showed dysgenetic gonads with a dysgerminoma arising from a gonadoblastoma in the left gonad. This case shows that even very small Y derived marker chromosomes with pericentric material can predispose the phenotypic female to gonadal neoplasia.
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keywords = dysgerminoma
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2/2. Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis.

    Although the occurrence of pure gonadal dysgenesis PGD is usually sporadic and nonfamilial, here we present 3 sisters with 46, XX PGD, who are born from a first cousin marriage. review of their family pedigree is compatible with autosomal recessive inheritance. Surprisingly, 2 of these sisters developed ovarian tumors. Both showed the pathological result of dysgerminoma with syncytiotrophoblastic giant cells. These 2 cases are examples of tumorigenesis in PGD without an identifiable y chromosome. Therefore, malignant degeneration of the streak gonads should be considered in the patients with 46, XX PGD.
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ranking = 5
keywords = dysgerminoma
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