Cases reported "Turner Syndrome"

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11/280. Isodicentric y chromosome in an Ullrich-Turner patient without virilization.

    We report on a 17-year-old young woman with Ullrich-turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y-derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism).
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12/280. Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.

    We report a mother and two daughters with partial Xp monosomy. Clinical assessment for Turner phenotype revealed that the three females manifested low-normal to mild short stature (-1.6 to approximately -2.3 SD) and variable degrees of skeletal features, such as cubitus valgus, short 4th matacarpals, and Madelung deformity, but no soft tissue or visceral anomalies or gonadal dysfunction. Cytogenetic studies for lymphocytes showed that the karyotype was 45,X[3]/46,X,del(X)(p21.1)[27] in the mother and non-mosaic 46,X,del(X)(p21.1) in the two daughters. fluorescence in situ hybridization and microsatellite analyses for 19 loci/regions on the x chromosome demonstrated that the del(Xp) chromosome was missing SHOX and had the breakpoint between DMD and CYBB. The results are consistent with the recently proposed notion that haploinsufficiency of SHOX results in not only short stature, but also Turner skeletal features in association with maturational effects of gonadal estrogens. The lack of soft tissue or visceral anomalies suggests the presence of the putative lymphogenic gene on the del(Xp) chromosome; the preservation of ovarian function appears to be compatible with meiotic pairing failure being relatively mild.
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13/280. association of Turner's syndrome and Swyer's syndrome in the same family.

    We report two phenotypically and genetically different diseases in the same family. One patient presented with Turner phenotype as a result of chromosomal mosaicism 45,X/46,X, inv(X)(q21;q24) (30%/70%). Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a result of a point mutation in the SRY gene on her y chromosome. dna sequencing revealed a G-->C transversion (nucleotide position 693) resulting in a change from glycine95 to arginine (G95R). Here we report for the first time an association of Turner's syndrome and Swyer's syndrome in the same family.
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14/280. Clinical, cytogenetic and molecular analysis of three 46,XX males.

    cytogenetic analysis, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) were applied to characterize the Y-chromosomal breakpoints of three XX male patients. Two of these patients show a breakpoint within a protein kinase gene, PRKY, previously described as a hotspot of ectopic recombination between homologous regions on X and Y chromosomes during male meiosis. The slightly different clinical phenotypes of the three patients cannot be correlated with the localization of the breakpoints.
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15/280. A mutation in the 5' non-high mobility group box region of the SRY gene in patients with turner syndrome and Y mosaicism.

    In Ullrich-turner syndrome (UTS) patients, the presence of a Y-chromosome or Y-derived material has been documented in frequencies ranging from 4-61%. Mutations of SRY (testis-determining gene) constitute the cause of XY sex reversal in approximately 10-15% of females with pure gonadal dysgenesis. Most of these mutations have been described in the HMG (high mobility group) box of the gene, which is the region responsible for dna binding and bending; however, various mutations outside the HMG box have been reported. We carried out molecular studies of the SRY gene in three patients with a UTS phenotype and bilateral streaks; two presented a 45,X/46,XY mosaic, and the third a Y marker chromosome. In two patients a missense mutation, S18N, was identified in the 5' non-HMG box region in dna from blood and both streaks; this mutation was not identified in 75 normal males. Sequencing of the dna region of interest was normal in the father and older brother of patient 1, demonstrating that in this patient the mutation was de novo. A previous report of a 46,XY patient with partial gonadal dysgenesis who presented the same mutation as our patients indicates the probable existence of a hot spot in this region of the SRY gene and strengthens the possibility that all gonadal dysgeneses constitute part of a spectrum of the same disorder. It also demonstrates that a single genetic abnormality can result in a wide range of phenotypic expression.
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16/280. Usefulness of fluorescence in situ hybridization for the diagnosis of Turner mosaic fetuses with small ring X chromosomes.

    OBJECTIVE: To emphasize the usefulness of fluorescence in situ hybridization (FISH) techniques on uncultured amniocytes for the diagnosis of abnormal mosaic karyotypes. methods: In the course of three prenatal diagnoses, specific fluorescent probes, coding, respectively, for chromosomes X, Y, 18, 13, and 21, were applied on amniocyte preparations directly after amniocentesis. At least 50 nuclei were counted in each case. Parallel to the FISH procedure, cell cultures were set up in order to obtain karyotypes. FISH and cytogenetic results were then compared. RESULTS: In each case, FISH showed an abnormal mosaic chromosomal constitution, 45,X/46,XX, which was related to the existence of tiny ring X chromosomes in karyotypes. CONCLUSION: Because very small ring X chromosomes can escape identification when standard cytogenetic techniques are used alone, we show that misdiagnosis can be avoided when FISH is performed beforehand.
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17/280. Investigation of turner syndrome in schizophrenia.

    Both turner syndrome and schizophrenia are relatively infrequent conditions. Consequently, individuals having both illnesses are rare. Previous reviews of sex chromosome abnormalities in schizophrenia have focused primarily on the presence of supernumerary X-chromosomes. After identifying two female patients with schizophrenia and turner syndrome, we reevaluated the available literature that survey female schizophrenics for the presence of chromosomal abnormalities. Eleven patients with turner syndrome were identified among 6,483 females with schizophrenia in non-case-report studies. These survey results indicate that turner syndrome occurs approximately three-fold more frequently in schizophrenic females than in the general female population (P < 0.02). Including 6 other case reports and our 2 cases, a total of 19 females with both schizophrenia and turner syndrome were reported. Interestingly, whereas most turner syndrome patients have the 45,X karyotype, the majority (18/19) of women with both illnesses have a mosaic karyotype (P < 0.0002). Given the potential role of genes on the X-chromosome in the pathogenesis of schizophrenia, the study of unique populations with abnormalities in this chromosome, such as women with turner syndrome, may offer clues into this illness.
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18/280. Cirrhosis in Turner's syndrome: case report and literature review.

    A case of cryptogenic cirrhosis in a patient with Turner's syndrome is presented. The individual was admitted for upper gastrointestinal bleeding due to oesophageal varices. After failure of medical treatment, a transjugular intra-hepatic portal systemic shunt was used to control the bleeding. A liver biopsy revealed cirrhosis with minimal necro-inflammatory activity and no steatosis. Immunohistochemical staining for HCV, HBsAg and HBcAg was negative. No other risk factor for liver disease was recognized and none of the known causes of chronic liver disease was identified after a thorough evaluation for such. Turner's syndrome is a genetic disorder due to x chromosome monosomy in which a wide range of congenital anomalies can occur. Cardiac, renal and skeletal anomalies are all well recognized. The possible association of Turner's syndrome with cirrhosis is herein discussed along with a review of the published literature.
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19/280. Multicystic kidney dysplasia and turner syndrome: two cases and a literature review.

    Renal malformations occur in 33%-70% of cases of turner syndrome (chromosome 45 and variants). We describe two cases of multicystic dysplastic kidney in turner syndrome. A literature review of renal abnormalities in turner syndrome shows the frequency of cystic disease to be 1.76%. In multicystic dysplastic kidney, diagnostic investigation of the contralateral kidney, including voiding cystourethrography, is necessary in view of the high incidence of associated diseases (15%-20% of cases, vesicoureteric reflux) and other anomalies.
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20/280. Supernumerary chromosomes in mosaic turner syndrome.

    The finding of a supernumerary or marker chromosome in a karyotype poses difficulty in genetic counselling. The true incidence and significance of this chromosomal aberration is unknown in malaysia. We report two patients who presented with supernumerary chromosomes in mosaic turner syndrome.
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