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Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome.
Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cellExpand
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A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.
Kallmann's syndrome (KS) is defined by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. Segregation analysis in familial cases has demonstrated diverse inheritance patterns,Expand
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Deletion Pattern of the STS Gene in X-linked Ichthyosis in a Mexican Population
BackgroundX-linked ichthyosis (XLI) is an inherited disorder due to steroid sulfatase deficiency (STS). Most XLI patients (>90%) have complete deletion of the STS gene and flanking sequences. TheExpand
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Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome
1977, Fryns et al. 1984, Soekarman et al. 1994). Recently, we had a patient with features compatible with the KBG syndrome. In addition, he presented stenosis of the left pulmonary artery andExpand
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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)Expand
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Extragonadal germ cell tumors are often associated with Klinefelter syndrome.
Klinefelter syndrome is a well documented abnormality of sex differentiation, with an incidence of 1 in 600 newborn males. It is characterized by a 47,XXY or a mosaic karyotype and clinical findingsExpand
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Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity
The androgen insensitivity syndrome (AIS) is an X‐linked form of male pseudohermaphroditism caused by mutations in the androgen receptor (AR) gene. In the present study, we analyzed the AR gene in 8Expand
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"Unscheduled" DNA synthesis in human germ cells following UV irradiation.
Abstract By the use of autoradiographic techniques, “unscheduled” DNA synthesis has been demonstrated in human germ cells following irradiation with high doses of UV light. All spermatogenic stagesExpand
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Meiosis in the male mouse. An autoradiographic investigation
Meiosis in the male mouse has been studied autoradiographically in air-dried preparations. Information has been obtained on the relative rates of DNA synthesis and the lengths of the S-periods inExpand
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Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences.
Turner syndrome (TS) is a disorder caused by partial or complete X-chromosome monosomy. Studies in TS patients with different karyotypes have demonstrated the presence of Y-chromosome-derivedExpand
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