The origin and phenotype of XO males

Fraccaro, M.; Lindsten, J.; Curto, Franco Lo

doi:10.1007/bf00284117

Cited by 10 publications

(4 citation statements)

References 5 publications

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“…One way to test this directly would be a real-time analysis of chromosome movement to determine whether the same chromosomes express a lagging phenotype in both metaphase and anaphase. Alternatively, lagging anaphase chromosomes, like bridged chromosomes, could also be the result of dicentric chromosomes, if one centromere is only partially active, as originally suggested by Fraccaro et al (18).…”

Section: Discussionmentioning

confidence: 84%

Chromosomal instability and cytoskeletal defects in oral cancer cells

Saunders

Shuster²,

Huang³

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

231

150

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Oral squamous cell carcinomas are characterized by complex, often near-triploid karyotypes with structural and numerical variations superimposed on the initial clonal chromosomal alterations. We used immunohistochemistry combined with classical cytogenetic analysis and spectral karyotyping to investigate the chromosomal segregation defects in cultured oral squamous cell carcinoma cells. During division, these cells frequently exhibit lagging chromosomes at both metaphase and anaphase, suggesting defects in the mitotic apparatus or kinetochore. Dicentric anaphase chromatin bridges and structurally altered chromosomes with consistent long arms and variable short arms, as well as the presence of gene amplification, suggested the occurrence of breakage-fusionbridge cycles. Some anaphase bridges were observed to persist into telophase, resulting in chromosomal exclusion from the reforming nucleus and micronucleus formation. Multipolar spindles were found to various degrees in the oral squamous cell carcinoma lines. In the multipolar spindles, the poles demonstrated different levels of chromosomal capture and alignment, indicating functional differences between the poles. Some spindle poles showed premature splitting of centrosomal material, a precursor to full separation of the microtubule organizing centers. These results indicate that some of the chromosomal instability observed within these cancer cells might be the result of cytoskeletal defects and breakage-fusion-bridge cycles.

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Section: Discussionmentioning

confidence: 84%

Chromosomal instability and cytoskeletal defects in oral cancer cells

Saunders

Shuster²,

Huang³

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

231

150

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“…For cases 2, 3 and 10 accordingly, the translocations to chromosome 5 and 18 resulted in the cri-du-chat syndrome (2, 3) or in severe malformations (10). Fraccaro et al (1987) have previously suggested that partial autosomal monosomy with specific phenotypic malformations is to be expected in 45,X0 males resulting from translocations involving non-acrocentric chromosomes. Stahl et al (1984) reported in association between the nucleoli of the acrocentric chromosomes and the sex vesicle containing the XY gonosomes in human spermatocytes.…”

Section: Discussionmentioning

confidence: 98%

A sterile male with 45,X0 and a Y;22 translocation

Arnemann

Schnittger

Hinkel³

et al. 1991

Hum Genet

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Cytogenetic analysis of a 20-year-old sterile male revealed a 45,X0 karyotype with no evidence for Y-chromosomal material on any of the chromosomes analysed by Q-, G- and C-banding. DNA analysis with 17 different Y chromosome-derived probes revealed the presence of Yp DNA sequences in the patient's genome. In situ hybridization with the Yp-derived probe pJA36B disclosed a translocation of Y-chromosomal material onto the short arm of a chromosome 22.

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“…Other phenotypic consequences of Y/autosome translocations depend on the breakpoints in the Y chromosome and the genetic content of the exchanged autosoreal regions as previously suggested (Fraccaro et al 1987). A preferential translocation site on 5p (Table 1, cases 3, 6, 12, 13), or on the p-arm of acrocentric chromosomes with less deleterious signs (Table 1, cases 7, 10, 11, 15-17, 22) has become less likely by more recent observations of translocations to other autosomal sites (Table 1, cases 8, 18-21, 23).…”

Section: Discussionmentioning

confidence: 86%

Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome

et al. 1992

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A 45,X karyotype was found in a boy with dysmorphic features, hypoglycaemia and pancytopenia. DNA analysis showed the presence of the Y-chromosomal DNA sequences SRY, ZFY, DYZ4, DYZ3 and DYS1. Using fluorescent in situ hybridization, we located DYZ4 and DYZ3 on chromosome 11qter and concluded that a de novo translocation (Y;11) (q11.2;q24) with a deletion of 11q24----qter and a deletion of Yq11.2----Yqter were present; Jacobsen syndrome and azoospermia are associated with these deletions. Signs of Jacobsen syndrome were observed in the patient.

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The origin and phenotype of XO males

Cited by 10 publications

References 5 publications

Chromosomal instability and cytoskeletal defects in oral cancer cells

Chromosomal instability and cytoskeletal defects in oral cancer cells

A sterile male with 45,X0 and a Y;22 translocation

Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome

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