Characterization of a deleted Y chromosome in a male with Turner stigmata

Calzolari, Elisa; Patracchini, P.; Palazzi, P.; Aiello, Vincenzo; Ferlini, Alessandra; Trasforini, G.; Uberti, E. Degll; Bernardi, F

doi:10.1111/j.1399-0004.1993.tb04419.x

Cited by 18 publications

(14 citation statements)

References 39 publications

(26 reference statements)

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“…Clinical reports of phenotypic males with nonmosaic Y chromosome deletions exist in the literature [Salo et al, 1995], but only very rarely associated with features of Turner syndrome [Calzolari et al, 1993; Barbaux et al, 1995; Tzancheva et al, 1999] like it is seen in this case. Genotype–phenotype correlations from these case reports have suggested the potential locations of candidate pathogenic Turner genes in the pseudoautosomal region of Yp [Kosho et al, 1999] as well as proximal Yq [Barbaux et al, 1995; Tzancheva et al, 1999].…”

Section: Discussionsupporting

confidence: 53%

“…The presence of X chromosome monosomy in these individuals as well as the absence of this phenotype in 46,XY males has led to speculation that the pathogenesis of Turner syndrome is related to haplo‐insufficency of genes present on both the X and the Y chromosomes escaping X inactivation [Ferguson‐Smith, 1965; Zinn and Ross, 1998]. Reports of males with clinical features of Turner syndrome and non‐mosaic deletions of the Y‐chromosome are very rare [Calzolari et al, 1993; Barbaux et al, 1995; Tzancheva et al, 1999], but are important in furthering our understanding of the pathogenesis of the clinical features of Turner syndrome. In this report, we describe a male with classical clinical features of Turner syndrome and a non‐mosaic deletion of the Y‐chromosome.…”

Section: Introductionmentioning

confidence: 99%

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Male patient with non‐mosaic deleted Y‐chromosome and clinical features of Turner syndrome

Graham

Bacino

2003

American J of Med Genetics Pt A

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Turner syndrome is hypothesized to result from haplo-insufficiency of a gene or perhaps multiple genes present on the sex chromosomes; however, the frequent association of mosaicism with deletions of the sex chromosomes prevents establishing useful genotype/phenotype correlations. In this clinical report, we present a male with a de novo, non-mosaic deletion of the Y-chromosome. The phenotype of this patient is unlike any similar cases previously reported in the literature. This patient exhibits many classical clinical features of Turner syndrome including short stature, characteristic facial anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and hearing impairment. Detailed molecular characterization of this deleted Y-chromosome could provide important information towards establishing genotype/phenotype correlations in Turner syndrome.

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Section: Discussionsupporting

confidence: 53%

Section: Introductionmentioning

confidence: 99%

Male patient with non‐mosaic deleted Y‐chromosome and clinical features of Turner syndrome

Graham

Bacino

2003

American J of Med Genetics Pt A

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“…In all three replicates, CSS-Y males weighed less than B6 males (Table 1). Interestingly, several reports of human patients with structural abnormalities involving the Y chromosome include obesity as one of several clinical features, although no causative gene has been identified (Calzolari et al 1993; Castro et al 2004; De Rosa et al 1997; Velissariou et al 2007). …”

Section: Discussionmentioning

confidence: 99%

Genetic resistance to diet-induced obesity in chromosome substitution strains of mice

et al. 2010

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Discovery of genes that confer resistance to diseases such as diet-induced obesity could have tremendous therapeutic impact. We previously demonstrated that the C57BL/6J-ChrA/J/NaJ panel of chromosome substitution strains (CSSs) is a unique model for studying resistance to diet-induced obesity. In the present study, three replicate CSS surveys showed remarkable consistency, with 13 A/J-derived chromosomes reproducibly conferring resistance to high-fat-diet-induced obesity. Twenty CSS intercrosses, one derived from each of the 19 autosomes and chromosome X, were used to determine the number and location of quantitative trait loci (QTLs) on individual chromosomes and localized six QTLs. However, analyses of mean body weight in intercross progeny versus C57BL/6J provided strong evidence that many QTLs discovered in the CSS surveys eluded detection in these CSS intercrosses. Studies of the temporal effects of these QTLs suggest that obesity resistance was dynamic, with QTLs acting at different ages or after different durations of diet exposure. Thus, these studies provide insight into the genetic architecture of complex traits such as resistance to diet-induced obesity in the C57BL/6J-ChrA/J/NaJ CSSs. Because some of the QTLs detected in the CSS intercrosses were not detected using a traditional C57BL/6J × A/J intercross, our results demonstrate that surveys of CSSs and congenic strains derived from them are useful complementary tools for analyzing complex traits.

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“…The localization of genes on Yp that suppress some of the features of Turner's syndrome continues to bemuse hapless human geneticists all over as some recent reports have placed such a gene(s) near the centromere (Calzolari et al, 1993;Weil et al, 1993) whereas most earlier work restricts it (them) to the distal Yp region (Ogata et al, 1993). Perhaps the postulated inversion polymorphism of Yp would explain one gene being two places at once; alternatively, there are several genes contributing to the phenotype, and they can be localized in two different places.…”

Section: Genes On Ypmentioning

confidence: 99%