A high resolution deletion map of human chromosome Xp22

Schaefer, Laura; Ferrero, Giovanni Battista; Grillo, A.; Bassi, Maria Teresa; Ej, Roth; Mc, Wapenaar; Gj, van Ommen; Tk, Mohandas; Rocchi, Mariano; Zoghbi, Huda Y.; Ballabio, Andrea

doi:10.1038/ng0793-272

Cited by 90 publications

(70 citation statements)

References 71 publications

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“…16 Selection for the active X chromosome yielded 12 clones bearing only the normal X and five clones retaining both X chromosomes. Back selection for the inactive X on one diploid clone yielded 12 hybrids containing the deleted inactive X chromosome, three of which were selected for analysis.…”

Section: Methodsmentioning

confidence: 99%

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

Meloni

2002

Journal of Medical Genetics

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Section: Methodsmentioning

confidence: 99%

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

Meloni

2002

Journal of Medical Genetics

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“…Metaphase Y-chromosomes with hybridization signals were examined and the amelogenin locus was found clearly on the short arm of the Y-chromosome in the p11.2 region, and this is generally agreed upon 13,17 . Precise mapping of human amelogenin gene (AMG) in the p22 region on the X-chromosome 18 and the homolog (AMGL) on the Y-chromosome 19 were reported.…”

Section: Mapping Of Human Amelogenin Gene Loci On the X-and Ychromosomesmentioning

confidence: 99%

İnsan İskeleti Parçalarından ve Diş Örneklerinden Amelogenin Genini Kullanarak Cinsiyet Belirleme

Zagga¹,

Ahmed²,

Tadros³

et al. 2014

Arşiv Kaynak Tarama Dergisi

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Alternative approaches to sex determination of DNA samples involve investigation of regions of the amelogenin gene. This is the gene that encodes tooth enamel and is present on both the X and Y chromosomes. A review composed via Medline Internet search of literature and contributions from our experiences as well as experiences from colleagues. The rareness of failures in sex determination provides confidence in current techniques, but amelogenin gene method (singly) of sex determination is not without failures. Amelogenin PCR method/system of sex determination should not, at the moment, completely replace traditional methods of sex identification. Hence, sex identification with amelogenin gene, of subjects for forensic purposes should be conducted as much as possible through a multiple morphological-molecular combined methods to avoid fallibility of amelogenin gene.

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“…The phenotypic variations are significant and some patients possess only one of the two major anomalies. To date, 22 affected individuals have been reported (Ropers et al 1982;Al-Gazali et al 1988;Donnenfeld et al 1990;Temple et al 1990;Allanson and Richter 1991;Gericke et al 1991;Thies et al 1991;Lindor et al 1992;Naritomi et al 1992;Happle et al 1993;Schaefer et al 1993;1996;Bird et al 1994;Eng et al 1994;Lindsay et al 1994;Mucke et al 1995;Stratton et al 1998).…”

Section: Introductionmentioning

confidence: 99%

Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions

et al. 1999

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A case of microphthalmia with Xp microdeletion is reported. The patient was a boy who showed bilateral microphthalmia with corneal opacities, hypospadias without evidence of hypogonadism, and a conduction disturbance of the heart (Wenckebach conduction). No skin lesion was discerned. High-resolution chromosome analysis revealed the karyotype of 46,X,del(X)(p22). The phenotype was considered to be microphthalmia with linear skin defects (MLS) syndrome without skin lesions. Polymerase chain reaction and fluorescence in-situ hybridization analyses revealed that the chromosome aberration resulted from an X;Y translocation: the presence of pseudoautosomal boundary Y and the sex-determining region of Y was confirmed, while Xp deletion involving the region distal to DXS1129 was ascertained. Thus the chromosome designation using the ISCN 1995 nomenclature is 46,X,der(X),t(X;Y)(p22.13;q11.2). Despite the absence of skin lesions, the Xp deletion of our patient corresponded to those of previously reported typical cases of MLS syndrome. Our observation further supports the current hypothesis that the phenotypic variation of MLS syndrome represents tissue-different X inactivation rather than different genetic effects of two contiguous genes.

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A high resolution deletion map of human chromosome Xp22

Cited by 90 publications

References 71 publications

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

İnsan İskeleti Parçalarından ve Diş Örneklerinden Amelogenin Genini Kullanarak Cinsiyet Belirleme

Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions

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