Subtelomeric translocations are not a frequent cause of recurrent miscarriages

Fan, Yao Shan; Zhang, Yang

doi:10.1002/ajmg.10336

Cited by 10 publications

(6 citation statements)

References 11 publications

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“…These findings are similar to those of Rio et al (9). A history of repeat miscarriages does not appear to be a good indicator and thus was not part of our inclusion criteria (5,(10)(11)(12)(13)(14)(15).…”

Section: Discussionsupporting

confidence: 89%

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

et al. 2002

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The regions near telomeres of human chromosomes are gene rich. Chromosome subtelomere rearrangements occur with a frequency of 7–10% in children with mild‐to‐moderate mental retardation (MR) and approximately 50% of cases are familial. Clinical investigation of subtelomere rearrangements is now prompted by fluorescence in situ hybridization (FISH) analysis using specific DNA probes from all relevant chromosome ends. In our study, 40 children were selected for subtelomere assay using either the Chromophore Multiprobe‐T Cytocell device or the VYSIS TelVision probes. Inclusion criteria were: developmental delay or MR; a normal 550 G‐band karyotype; FRAXA negative; and at least one other clinical criterion. Exclusion criteria included an identified genetic or environmental diagnosis. Of the 40 patients analysed, four (10%) were found to have subtelomere rearrangements. Three of 40 (7.5%) were found to have an unbalanced subtelomere rearrangement and one of 40 (2.5%) was found to have an apparently normal variant subtelomere deletion. The first of the three with an unbalanced karyotype was the result of a familial translocation, the second was a de novo finding, and the origin of the third could not be determined. The subtelomere FISH assay detected almost twice the frequency of unbalanced karyotypes as those detected by 550 G‐banding in our cytogenetics laboratory (4.7%). In addition, subtelomere screening was eight times more likely than fragile X screening in our DNA laboratory (1%) to detect genetic abnormalities in mentally handicapped individuals. Our findings support the view that screening for subtelomere rearrangements has a greater positive yield than other commonly used genetic investigations and, if cost and resources permit, should be the next diagnostic test of choice in a child with unexplained MR/dysmorphisms and a normal 550 G‐band karyotype.

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Section: Discussionsupporting

confidence: 89%

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

et al. 2002

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“…As far as we know, all the similar studies have reported only three cases with subtelomeric chromosomal rearrangements in a total of 175 couples (4)(5)(6)(7)(8).…”

Section: Discussionmentioning

confidence: 87%

A subtelomeric translocation apparently implied in multiple abortions

Monfort

Martı́nez

Roselló

et al. 2006

J Assist Reprod Genet

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“…However, most pregnancies with major fetal malformations are terminated making it difficult to evaluate the extent of this overlap. The malformations diagnosed in the patients described here were generally more severe than the ones seen in patients with mental retardation and it could have been expected that only large chromosomal rearrangements would have been implicated as is the case for couples with recurrent spontaneous abortions [Benzacken et al, 2002; Fan and Zhang, 2002; Cockwell et al, 2003]. However, one must consider that the standard cytogenetic resolution with amniocytes is lower than with lymphocytes [Horsman, 1994].…”

Section: Discussionmentioning

confidence: 94%

Prenatal detection of subtelomeric rearrangements by multi‐subtelomere FISH in a cohort of fetuses with major malformations

Gignac

Danis

Tihy

et al. 2006

American J of Med Genetics Pt A

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Cryptic unbalanced subtelomeric rearrangements have been identified as an important contributor ( approximately 6%) to the etiology of mental retardation and dysmorphism. Our objective was to study the role of these rearrangements in the development of fetal malformations. Multi-subtelomere FISH was performed on cells from 48 fetuses with major malformations diagnosed by prenatal ultrasound with a normal karyotype at a minimal 400 band resolution. We developed a method of performing multi-subtelomere FISH on a single slide of amniocyte metaphase spreads. We identified five subtelomeric abnormalities: two derivative chromosomes inherited from a parent carrying a balanced translocation, two known polymorphisms, and one novel familial variant. These results show a similar frequency (4%) of clinically significant subtelomeric rearrangements to that found in children with multiple malformations. This study adds to a growing number of reports of cryptic subtelomeric rearrangements associated with congenital malformations and highlights the relevance and technical feasibility of multi-subtelomere FISH screening of prenatal samples.

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Subtelomeric translocations are not a frequent cause of recurrent miscarriages

Cited by 10 publications

References 11 publications

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

A subtelomeric translocation apparently implied in multiple abortions

Prenatal detection of subtelomeric rearrangements by multi‐subtelomere FISH in a cohort of fetuses with major malformations

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