Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.

Bernstein, R; Jenkins, Trefor; Dawson, Bronwen; Wagner, Joan; Dewald, Gordon W.; Koo, Gloria C.; Wachtel, Stephen S.

doi:10.1136/jmg.17.4.291

Cited by 95 publications

(43 citation statements)

References 27 publications

(6 reference statements)

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“…Duplications of the short arm of the X chromosome are uncommon with 12 reported cases in the literature (Nahara et al 1979;Bernstein et al 1980;Nielsen and Langkjaer 1982;Nielsen et al 1983;Scherer et al 1989;Deng et al 1990;Wyandt et al 1991;Cianchetti et al 1992;Ogata et al 1992;Tuck-Muller et al 1993;Arn et al, 1993). Of these cases, 10 had a Y chromosome.…”

Section: Introductionmentioning

confidence: 93%

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome

et al. 1994

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We describe a male infant with severe mental retardation and autism with a duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified one copy of the zinc finger protein on the X chromosome (ZFX) and two copies of the steroid sulfatase gene (STS), further delineating the breakpoints. Based on cytogenetic and molecular comparisons of cases from the literature of sex-reversal in dup(X),Y patients and our patient, we suggest that a possible secondary sex-influencing gene involved in the regulation of sex determination or testis morphogenesis is present at the distal Xp21.1 to p21.2 region.

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Section: Introductionmentioning

confidence: 93%

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome

et al. 1994

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“…In fact large Xp duplications do not have any influence on female fertility, as demonstrated by the mothers of XY patients with sex reversal due to Xp21 duplication. [26][27][28][29][30] Another patient with amenorrhea and a rearrangement similar to those of class II has been reported. 31 It is of interest to note that this patient, as cases 3-4, is taller than average, or at least than expected from her mid-parental height.…”

Section: Discussionmentioning

confidence: 99%

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

et al. 2000

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Paralogous sequences on the same chromosome allow refolding of the chromosome into itself and homologous recombination. Recombinant chromosomes have microscopic or submicroscopic rearrangements according to the distance between repeats. Examples are the submicroscopic inversions of factor VIII, of the IDS gene and of the FLN1/emerin region, all resulting from misalignment of inverted repeats, and double recombination. Most of these inversions are of paternal origin possibly because the X chromosome at male meiosis is free to refold into itself for most of its length. We report on two de novo rearrangements of the X chromosome found in four hypogonadic females. Two of them had an X chromosome deleted for most of Xp and duplicated for a portion of Xq and two had the opposite rearrangement (class I and class II rearrangements, respectively). The breakpoints were defined at the level of contiguous YACs. The same Xp11.23 breakpoint was found in the four cases. That of the long arm coincided in three cases (Xq21.3) and was more proximal in case 4 (Xq21.1). Thus class I rearrangements (cases 1 and 2) are reciprocal to that of case 3, whilst that of case 4 shares only the Xp breakpoint. The abnormal X was paternal in the three cases investigated. Repeated inverted sequences located at the breakpoints of rearrangements are likely to favour the refolding of the paternal X chromosome and the recombination of the repeats. The repeat at the Xp11 may synapse with either that at Xq21.3 or that at Xq21.1. These rearrangements seem to originate as the Xq28 submicroscopic inversions but they are identifiable at the microscopic level and result from a single recombination event.

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“…XY individuals have been reported with an apparently normal SRY locus, X chromosome abnormalities and who are female (Berstein et al, 1980;Scherer et al, 1989;Ogata et al, 1992). Several females have been described with a 46 Y, Xp+ karyotype with no evidence of mosaicism.…”

Section: Chromosomal Abnormalities Associated With Sex Reverrulmentioning

confidence: 99%

Control of sex determination in animals

McElreavey

Vilain

Cotinot

et al. 1993

European Journal of Biochemistry

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Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.

Cited by 95 publications

References 27 publications

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

Control of sex determination in animals

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