Cytogenetic investigation of six patients with X isochromosomes, i(Xq), and of two subjects with isodicentric X chromosomes, idic(Xq)

Gaál, Magdolna; László, J.; Bösze, P

doi:10.1007/bf00282816

Cited by 6 publications

(5 citation statements)

References 16 publications

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“…Patients with partial trisomy for Xp and partial monosomy for Xq are uncommon. A distinct phenotype is observed, involving minimal physical features with reproductive and fertility concerns including ovarian failure and primary or secondary amenorrhea at various ages [Laca et al, 1979; Gaal et al, 1981; Barnabei et al, 1983; Fryns et al, 1983; Trunca et al, 1984; Ponzio et al, 1987]. All cases of isodicentric X with breakpoints involving proximal q21 to distal qter that have previously been reported in the English literature are summarized in Table I (all patients without mosaicism) and Table II (online version, including 45,X/46,X,idic(X) mosaic karyotypes).…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, most reported cases are ascertained at later ages due to amenorrhea and reproductive issues. [Daniel et al, 1979; Gaal et al, 1981; Barnabei et al, 1983; Fryns et al, 1983; Therman et al, 1986; Ponzio et al, 1987; Lebbar et al, 2002]. Patients with an isodicentric X chromosome with Xq deletion are deleted/monosomic for genetic material distal to the Xq breakpoint and duplicated/trisomic for the Xp arm [Barnabei et al, 1983].…”

Section: Introductionmentioning

confidence: 99%

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De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature

et al. 2006

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We describe a 12-year-old patient, the second live born prenatally ascertained patient in the literature, with a de novo isodicentric X chromosome, karyotype 46,X,idic(X)(q24), with normal growth and development and lack of dysmorphic features. Molecular and cytogenetic studies were performed to further characterize the isodicentric chromosome X behavior. Literature on isodicentric X chromosomes with various breakpoints on Xq is reviewed and summarized.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature

et al. 2006

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“…Cells from peripheral blood were cultured and pre pared according to our standard methods [Gaal et al, 1981],…”

Section: Methodsmentioning

confidence: 99%

Degree of Female Stress Urinary Incontinence: an Objective Classification by Simultaneous Urethrocystometry

Kujansuu¹,

Heikkinen²,

Riippa³

et al. 1984

Gynecol Obstet Invest

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Urodynamic examinations carried out on 45 patients with stress urinary incontinence (SUI) and 17 women without a history of incontinence using simultaneous microtransducer urethrocystometry were examined in order to develop an objective indicator of the severity of the condition. Five urethral pressure profiles (UPP) with stress were recorded, maintaining a constant coughing strength as seen in the bladder pressure rises. The coughing strength was increased stepwise for successive profiles. Zero urethral closure pressure, indicating genuine SUI, appeared with bladder pressure rises of less than 50, 75 and 100 mm Hg and of 100 mm Hg or more in 7, 27, 45 and 67% of the 45 symptomatic patients, respectively. 33% had a positive closure pressure in every UPP. 2 women without symptomatic incontinence had negative urethral closure pressures. The lowest bladder pressure rise needed for zero urethral closure pressure showed a significant negative correlation with the clinical grade of SUI and the degrees of social restriction experienced. We suggest that SUI can be classified urodynamically into minimal (lowest bladder pressure rise producing zero urethral closure pressure 100 mm Hg or more), mild (75–99 mm Hg), moderate (50–74 mm Hg) and severe forms (less than 50 mm Hg).

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“…1978). Symmet ric (Latt et al, 1976) and asymmetric (Dutrillaux, 1976;Dewald et al, 1978;Gaal et al, 1981) replication patterns have also been described for monocentric X isochromosomes of the long arm. ¡(Xq).…”

mentioning

confidence: 99%

“…Some authors (Dewald et al. 1978: Maraschio et al, 1980Gaal et al, 1981; Mutchinik ct al., 1981) reported the replication patterns to be symmetric on the two arms of isodiccntric X chromosomes with break point on the short arm. idic(X), while others found them to be asymmetric (Baranowskaya et al, 1976: Dutrillaux, 1976Dewald et al.…”

mentioning

confidence: 99%

Replication patterns of human X isochromosomes by high-resolution banding

Artifoni¹,

Baccichetti²,

Piovan³

et al. 1983

Cytogenet Genome Res

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The DNA replication patterns of eight cases of X isochromosomes, five idic(X) and three i(Xq), were studied. R-banded prometaphases and metaphases from lymphocyte cultures after synchronization with methotrexate and incorporation of 5-bromodeoxyuridine were analyzed. No significant differences in the frequency of metaphases with symmetric and asymmetric replication patterns between dicentric and monocentric isochromosomes were found. Furthermore the distribution of the frequencies of R-positive bands was similar and comparable to that of the normal late-replicating X. Our data suggest that the DNA replication pattern of Xq isochromosomes is not correlated with the mechanism of their origin.

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Cytogenetic investigation of six patients with X isochromosomes, i(Xq), and of two subjects with isodicentric X chromosomes, idic(Xq)

Cited by 6 publications

References 16 publications

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature

Degree of Female Stress Urinary Incontinence: an Objective Classification by Simultaneous Urethrocystometry

Replication patterns of human X isochromosomes by high-resolution banding

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