Identification of the origin of ring/marker chromosomes in patients with ullrich‐turner syndrome using X and Y specific alpha satellite DNA probes

Sa, Tharapel; Rs, Wilroy; Am, Keath; Ml, Rivas; At, Tharapel

doi:10.1002/ajmg.1320420519

Cited by 15 publications

(10 citation statements)

References 12 publications

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“…Although an association of ring (X) with mental retardation has been previously reported in UllrichTurner syndrome [Kushnick et al, 1987;Grompe et al, 1992;Van Dyke et al, 1992], our present review found several cases with a ring(X) that were associated with a typical Ullrich-Turner syndrome phenotype but lacked mental retardation [Crolla and Llerena, 1988;Koch et al, 1990;Cooper et al, 1991;Lindgren et al, 1992;Tharapel et al, 1992;Zenger-Hain et al, 1993;Gonzales-del Angel et al, 1995]. More recent evidence indicates that patients with a small ring X-chromosome lacking the XIST gene escape inactivation and are at increased risk for mental retardation [Migeon et al, 1993;Wolff et al, 1994;Jani et al, 1995].…”

Section: Discussionmentioning

confidence: 45%

“…Including the present 23 cases, a total of 86 sex chromosome markers studied with FISH have been reported Crolla and Learna, 1988;Kozma et al, 1988;Crolla et al, 1989;Babu et al, 1990;Cole et al, 1990;Guttenbach et al, 1990;Koch et al, 1990;Lin et al, 1990;Cooper et al, 1991;Pohlschmidt et al, 1991;Bajalica et al, 1992;Bernstein et al, 1992;Hou et al, 1992;Lindgren et al, 1992;Qu et al, 1992;Tharapel et al, 1992;Van Dyke et al, 1992;Dennis et al, 1993;Duncan et al, 1993;Pezzolo et al, 1993;Rajangam et al, 1993;Zenger-Hain et al, 1993; Cole et al, 1994;Daniel et al, 1994;Macera et al, 1994;Robson et al, 1994;Slim et al, 1994;Amiel et al, 1995;Callén et al, 1995;Cantú et al, 1995;Gonzalesdel Angel et al, 1995;Silahtaroglu et al, 1995]. These cases can be subdivided into four ascertainment groups: 1) Ullrich-Turner syndrome without mental retardation, 2) Ullrich-Turner syndrome with mental retardation, 3) prenatally diagnosed cases, and 4) other cases.…”

Section: Discussionmentioning

confidence: 81%

“…Although a 45,X karyotype is the most frequent cytogenetic finding in patients with Ullrich-Turner syndrome, it is estimated that 40-50% of patients with Ullrich-Turner syndrome demonstrate sex chromosomal mosaicism and 3-15% possess a second cell line containing an unidentified marker (or ring) chromosome [DeGrouchy and Turleau, 1984;Magenis et al, 1980]. Of the 50 markers from patients with Ullrich-Turner syndrome, which have been analyzed using FISH, 43 were Xderived (33 with a ring X and 10 with a marker X), and 7 were Y-derived (six with dicentric Y-chromosomes and one with a ring Y-chromosome) [Cole et al, 1990;Lin et al, 1990;Babu et al, 1990;Cooper et al, 1991;Hou et al, 1992;Lindgren et al, 1992;Tharapel et al, 1992;Van Dyke et al, 1992;Dennis et al, 1993;Ranjangam et al, 1993;Zenger-Hain et al, 1993;Macera et al, 1994;Robson et al, 1994;Callén et al, 1995;Cantú et al, 1995;Gonzales-del Angel et al, 1995;present study]. All seven patients with a Y-derived marker were phenotypic females but demonstrated a reported milder Ullrich-Turner syndrome phenotype (specifically with respect to somatic anomalies) than their counterparts with X-chromosome derived markers.…”

Section: Discussionmentioning

confidence: 99%

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Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

et al. 1997

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Fluorescence in situ hybridization (FISH) using biotin labeled X- and Y-chromosome DNA probes was utilized in the analysis of 23 sex chromosome-derived markers. Specimens were obtained through prenatal diagnosis, because of a presumptive diagnosis of Ullrich-Turner syndrome, mental retardation, and minor anomalies or ambiguous genitalia; three were spontaneous abortuses. Twelve markers were derived from the X chromosome and eleven from the Y chromosome; this demonstrates successfully the value and necessity of FISH utilizing DNA probes in the identification of sex chromosome markers. Both fresh and older slides, some of which had been previously G-banded, were used in these determinations. We have also reviewed the literature on sex chromosome markers identified using FISH.

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Section: Discussionmentioning

confidence: 45%

Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 99%

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Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

et al. 1997

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“…As compared with microdeletions of Yq11, gross structural abnormalities of Y chromosome occur much less commonly in infertile men [Yoshida et al, 1997]. In the literature, most cases carrying gross structurally abnormal Y chromosomes were referred because of features of Turner syndrome or ambiguous genitalia [Diekmann et al, 1992;Tharapel et al, 1992;Henegariu et al, 1997]. Herein, we describe detailed molecular characterization of two azoospermic men with r (Y).…”

Section: Introductionmentioning

confidence: 92%

Ring (Y) in two azoospermic men

Lin

et al. 2004

American J of Med Genetics Pt A

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We have identified two azoospermic men with r(Y) in 312 infertile men presenting with non-obstructive azoospermia or oligozoospermia. Their karyotypes were 45,X [9]/46,X, r(Y)(p11q11) [11] (case 1), and 46,X,r(Y)(p11q11) (case 2), respectively. In both cases, the Yp breakpoints were located within the pseudoautosomal region. Both cases had extensive deletions of azoospermia factors (AZFs). Case 1 also had deletion of the putative growth controlling gene (GCY) and the Yq breakpoint was located between sY741 and USP9Y. The Yq breakpoint was located between sY105 and sY109 in case 2. Both cases did not have Turner stigmata except short stature in case 1. By a combination of cytogenetic and molecular genetic tools, we showed r(Y) arose from breakage in both arms of the chromosome with subsequent fusion of two broken ends of the centric fragment to form a continuous ring. Spermatogenic defects in men with r(Y) may result from deletion of Y-linked AZFs combined with synaptic failure.

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“…For this comparison, we reviewed findings for 85 cases reported in the medical literature from 1980-2002 [Dallapiccola et al, 1980;Berkovitz et al, 1983;Kushnick et al, 1987;Koch et al, 1990;Lin et al, 1990;Guttenbach et al, 1991;Johnson et al, 1991;Grompe et al, 1992;Lindgren et al, 1992;Tharapel et al, 1992;Van Dyke et al, 1992;Dennis et al, 1993;Cole et al, 1994;Collins et al, 1994;Wolff et al, 1994;Cantu et al, 1995;Blumenthal and Allanson, 1997;El Abd et al, 1997;McGinniss et al, 1997;Uehara et al, 1997;Yorifuji et al, 1998;El Abd et al, 1999;Dennis et al, 2000;Kuntsi et al, 2000;Migeon et al, 2000;Turner et al, 2000;Stankiewicz et al, 2001;Tomkins et al, 2002]. We have presented separately the data from a large study of 47 cases in Table II because 15 of the cases in this study were reported earlier and included in our literature review Kuntsi et al, 2000].…”

Section: Clinical Evaluationmentioning

confidence: 99%

Phenotype and X inactivation in 45,X/46,X,r(X) cases

Leppig

Sybert

Ross

et al. 2004

American J of Med Genetics Pt A

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We studied a new series of 21 individuals mosaic for a ring X chromosome [r(X)]. Of nine individuals with mental retardation, only one had a r(X) that lacked XIST (X-inactive-specific transcript) and was not subject to X inactivation, which would explain the abnormal phenotype; the remaining eight cases had XIST on their r(X). The majority of cases (five of seven) with mental retardation had an apparently early replicating r(X); but the androgen receptor gene (AR) was methylated on one allele in five of six informative cases, including two cases with an early replicating r(X). These conflicting results on two indicators of X inactivation suggest a potential dissociation between late replication and DNA methylation in these r(X) chromosomes, which may fail to become completely silenced. Of the twelve subjects who were not mentally retarded, all had XIST present on their r(X) and most (8/10) showed a late replicating r(X), together with AR methylation in all five informative cases, indicating r(X) inactivation. Thus, the unusual phenotypic features and mental retardation associated with the presence of a r(X) cannot be explained solely on the basis of presence or absence of XIST. The r(X) in cases with mental retardation were consistently smaller than those in individuals with normal intelligence, perhaps indicating inability for small rings to undergo structural changes associated with complete X inactivation or lethality in cases with a large non-inactivated r(X). Of the Turner syndrome features present in the r(X) cases, only edema was present in a lesser frequency than in 45,X individuals. Our cases generally had a less severe phenotype than those previously reported, suggesting that reported incidences of abnormalities may be influenced by ascertainment bias, with mental retardation potentially unrelated to the presence of the r(X) in some cases.

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Identification of the origin of ring/marker chromosomes in patients with ullrich‐turner syndrome using X and Y specific alpha satellite DNA probes

Cited by 15 publications

References 12 publications

Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

Ring (Y) in two azoospermic men

Phenotype and X inactivation in 45,X/46,X,r(X) cases

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