Gonadal Dysgenesis 46xx
Mostrando 1-6 de 6 artigos, teses e dissertações.
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1. Clinical and molecular analysis of patients with disorders of gonadal development / Análise clínica e molecular de pacientes com distúrbios do desenvolvimento gonadal
Introdução: O termo distúrbios do desenvolvimento gonadal (DDG) inclui condições congênitas nas quais o desenvolvimento gonadal é atípico. Estudos feitos em camundongos observaram que alguns genes como o Cbx2 e o Tcf21 interferem na fase inicial do desenvolvimento gonadal, afetando tanto gônadas XX quanto XY. O gene Dhh, por sua vez, codifica o fato
Publicado em: 2009
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2. Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction.
Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a
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3. Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.
An 18-year-old female with some stigmata of pure dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter leads to q27: :q21 leads to qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and some problems of karyotype-phenotype correlation are discus
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4. Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female.
Four DNA sequences specific for the Y chromosome were isolated from a recombinant phage library constructed from flow sorted human Y chromosomes. Two of these sequences were moderately repeated and assigned to the short arm of the Y chromosome by in situ hybridization. Both sequences were detected in five out of six [corrected] 46,XX males and were reduced i
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5. An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.
A 25 year old woman with gonadal dysgenesis but no other somatic features of Turner's syndrome was found to have a 45,X/46,XidicX(p22.3) karyotype. It is postulated that because her stature is within the normal range there has been no loss of genetic material in the fusion of the two Xs. Her mother, who also had a history of menstrual problems, was found to
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6. Comparative cytogenetical and morphological studies in ovarian dysgenesis
In 14 cases of the Turner syndrome and pure gonadal dysgenesis streak gonads were studied histologically. In cases where the 46,XX line was unimpaired the blood vessels of the gonad showed severe degeneration in at least 30 to 50%. These streak gonads usually contained some of the characteristic ovarian elements as well as the vascular lesions. In gonosomal