Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

Ogata, Tsutomu; Hawkins, J. Ross; Taylor, A.; Matsuo, Nobutake; Hata, Junichi; Goodfellow, Peter N.

doi:10.1136/jmg.29.4.226

Cited by 73 publications

(39 citation statements)

References 43 publications

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“…There is at least one t(X;Y) SRY+ case reported with duplication of the NR0B1 gene, but only partial gonadal dysgenesis (Table 3). It has been suggested that the Xp breakpoint in this case may have disrupted the 5' regulatory Karyotype Phenotype Reference 46,X,der(Y)t(X;Y)(p21;p11.3) Female external genitalia, developmental delay/mental retardation, hypotonia, dysmorphic facial features, Ogata et al, 1992 psychomotor retardation, streak gonads, gonadoblastoma, autoimmune disease.…”

Section: Discussionmentioning

confidence: 98%

Case Report Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal

Ashton¹,

O'Connor²,

Jm³

et al. 2010

Genet. Mol. Res.

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ABSTRACT. Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The case reported here is the rare form with a t(Xp;Yp). The combination of conventional clinical cytogenetic techniques, microsatellite analysis and high-density microarrays identified the X-chromosome breakpoint as centromeric of the NR0B1 gene and its control elements. Cytogenetics and array technology complemented each other in characterizing the translocation event and the extent of the dosagesensitive sex reversal critical region on the derivative Y-chromosome. The implications of this analysis also lie in genetic counseling that highlight the likely de novo nature of a paternal meiotic event.

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Section: Discussionmentioning

confidence: 98%

Case Report Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal

Ashton¹,

O'Connor²,

Jm³

et al. 2010

Genet. Mol. Res.

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“…Em indivíduos 46,XY a duplicação de uma região no braço curto do cromossomo X chamada DSS (Dosage Sensitive Sex reversal, localizado em Xp21) causa disgenesia gonadal e sexo reverso independentemente da presença do SRY, enquanto que a deleção desse locus não afeta a diferenciação testicular (72)(73)(74)(75)(76). Por outro lado, a duplicação da região DSS em um dos cromossomos X de mulheres 46,XX não afeta a diferenciação ovariana.…”

Section: O Gene Sox9 [Sry-related High-mobility Group (Hmg) Box 9]unclassified

Genes envolvidos na determinação e diferenciação do sexo

Mello

Assumpção

Hackel

2005

Arq Bras Endocrinol Metab

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RESUMOO sexo cromossômico é estabelecido na fertilização pela presença de um cromossomo X ou Y. O desenvolvimento dos sexos masculino e feminino passa, num primeiro momento, pela especialização das gônadas em testículos ou ovários; os demais processos decorrem de efeitos secundários provocados pelos hormônios por elas produzidos. As etapas de determinação e diferenciação das gônadas em testícu-los ou em ovários e a diferenciação dos genitais externos masculinos ou femininos envolvem a expressão específica de uma cascata de genes. Esses genes, seus respectivos padrões de expressão, bem como seus envolvimentos na manifestação de patologias ligadas ao desenvolvimento gonadal e dos genitais externos serão abordados nesta revisão. ABSTRACT Genes Involved in Sex Determination and Differentiation.Chromosomal sex is established at fertilization by the presence of an X or Y chromosome. The first step of male and female development is gonadal specialization in testes or ovaries; all other processes that follow result from secondary effects produced by testis and ovary hormones. Gonadal determination and differentiation and the development of external genitalia involve time-and tissue-specific expression of genes forming a gene cascade. Those genes, their expression profile and their role in the pathological manifestations related to gonadal and external genitalia development will be discussed in this review. (Arq Bras Endocrinol Metab 2005;49/1:14-25 ) Keywords: Chromosome; Gene; Gonadal differentiation; Gonadal dysgenesis; Sex; SRY N OS SERES HUMANOS E NA MAIORIA DOS MAMÍFEROS, os processos de determinação e diferenciação sexuais estão intrinsecamente associados à presença ou à ausência do cromossomo Y no cariótipo (1,2). O evento pivô na determinação sexual é a especialização das gônadas; as demais diferenças entre os sexos são efeitos secundários devidos aos hormônios por elas produzidos (3). O processo como um todo é classicamente dividido em quatro etapas: a determinação do sexo cromossômico, que é estabelecida na fertilização; a diferenciação das gônadas em testículos ou em ovários; a diferenciação dos genitais internos e externos masculinos ou femininos a partir de estruturas indiferenciadas presentes no embrião, que é dependente da presença ou ausência de testículos; e a diferenciação sexual secundária, que é a resposta de vários tecidos aos hormônios produzidos pelas gônadas para completar o fenótipo sexual. Portanto, a expressão revisão

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“…Partial duplications of the short arm of the X chromosome have been described in 15 XY subjects with ambiguous or female external genitalia (Narahara et a!., 1979;Nielson & Langkjaer, 1982;Scherer et al, 1989;Stern et a!., 1990;May et al, 1991;Ogata et al, 1992;Bardoni et al, 1993Bardoni et al, , 1994Am et al, 1994;Rao et al, 1994 (Ogata et a!., 1992) proposed that sex reversal is caused by a double dosage of an X-linked gene(s) which is normally subject to X-inactivation. Thus XY Xp+ subjects have two active copies of the gene and are sex reversed, whereas XXY subjects have one active and one inactive X chromosome.…”

Section: Autosomal and X Chromosome Loci Associated With Sex Reversalmentioning

confidence: 99%

The genetic basis of murine and human sex determination: a review

et al. 1995

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Determination of mammalian sex depends on the presence or absence of a functional testis. Testes are determined by the activity of the testis determining factor encoded by the sex determining gene, Y (SRY) located on the Y chromosome. Considerable evidence suggests that the SRY gene is the only gene on the Y chromosome that is both necessary and sufficient to initiate testis determination. Other steps in the mammalian sex determining pathway are unknown, although recent advances have shown that mutations in X chromosome and autosoma! loci are also associated with sex reversal, suggesting the presence of at least one other sex determining gene. Duplications of sequences on the short arm of the human X chromosome, including the DAX-1 (DSS-AHC critical region on the X chromosome, gene 1) gene, are occasionally associated with XY male-to-female sex reversal. In addition, mutations in the SRY-related gene SOX9 (SRY-related box) are associated with a failure of human testicular determination. Furthermore, the occurrence of inherited sex reversed conditions in both mice and men indicate the presence of at least one other sex determining gene. Breeding the Y chromosome from certain Mus musculus domesticus strains into the laboratory mouse strain C57BLI6J results in XY male-to-female sex reversal. This suggests both allelic variation of the Sy gene and the presence of autosomal sex determining genes. In humans, familial cases of SRY-negative XX males occur. Analysis of the transmission of the trait indicates the segregation of an autosomal or X-linked recessive mutation. The mutation may be in a gene whose wild-type function is to inhibit male sex determination. SRY may trigger male sex determination by repressing or functionally antagonizing the product of this gene.

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Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

Cited by 73 publications

References 43 publications

Case Report Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal

Case Report Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal

Genes envolvidos na determinação e diferenciação do sexo

The genetic basis of murine and human sex determination: a review

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