Two different structural abnormalities of chromosome 13 in offspring of chromo‐somally normal parents with two fragile sites

Mules, Emilie H.; Stamberg, Judith; Jabs, Ethylin Wang; Léonard, Claude

doi:10.1111/j.1399-0004.1983.tb00450.x

Cited by 17 publications

(3 citation statements)

References 10 publications

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“…The fragile site FRA12A was detected in peripheral-blood cells with a frequency of 2 of 63 metaphases in standard low-folate medium. 17 When we added methotrexate and BrdU to the standard medium, frequency was increased to 11 of 50 metaphases. The addition of FudR also induced the FRA12A site in fibroblast cells, with a frequency of 8 of 77 metaphases.…”

Section: Clinical Diagnosis and Chromosome Analysismentioning

confidence: 99%

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

Winnepenninckx

Debacker

Ramsay

et al. 2007

The American Journal of Human Genetics

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A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental retardation. Here, we identify an elongated polymorphic CGG repeat as the molecular basis of FRA12A. This repeat is in the 5' untranslated region of the gene DIP2B, which encodes a protein with a DMAP1-binding domain, which suggests a role in DNA methylation machinery. DIP2B mRNA levels were halved in two subjects with FRA12A with mental retardation in whom the repeat expansion was methylated. In two individuals without mental retardation but with an expanded and methylated repeat, DIP2B expression was reduced to approximately two-thirds of the values observed in controls. Interestingly, a carrier of an unmethylated CGG-repeat expansion showed increased levels of DIP2B mRNA, which suggests that the repeat elongation increases gene expression, as previously described for the fragile X-associated tremor/ataxia syndrome. These data suggest that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A.

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Section: Clinical Diagnosis and Chromosome Analysismentioning

confidence: 99%

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

Winnepenninckx

Debacker

Ramsay

et al. 2007

The American Journal of Human Genetics

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“…Reports of Mules et al (1983) and Shabtai et al (1980) suggested that fragile sites have an increased risk of fetal wastage. Verkantraj and Verma (1987) demonstrated significant relationships between heritable fragile sites and chromosomal abnormalities in recurrent abortions.…”

Section: Discussionmentioning

confidence: 99%

A new heritable fragile site at 15q13 in a three-generation family

Zamani

Durakbasi-Dursun²,

Acar³

2007

Cytogenet Genome Res

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Here, we describe a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 15q13 is segregating. The fragile site was present in nine members of a three-generation family and expressed spontaneously in a high proportion of the metaphases varying from 88 to 95% under standard culture conditions in all the carriers. This didn’t change under folate deficiency.

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“…The predominant line in RC13-1 was RC13. A fragment was determined via FISH to be a marker derived from chromosome 13; this event was de novo in origin and was previously reported (Cooper et al, 1992;Mules et al, 1983). Patients RC13-2 and RC13-3 were ascertained before molecular cytogenetics; the predominant cell line in RC13-2 was the ring (87%), while three cells lost the ring.…”

Section: Chromosome 13 Ringsmentioning

confidence: 99%

Live‐born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center

Kushwaha,

Stinnett,

Zou

et al. 2023

American J of Med Genetics Pt A

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Ring chromosomes (RCs) are a structural aberration that can be tolerated better in acrocentric or gonosomal chromosomes. Complete RCs arise from telomere‐telomere fusions. Alternatively, genomic imbalances corresponding to the ends of the chromosomal arms can be seen with RC formation. RCs are unstable in mitosis, result in mosaicism, and are associated with a “ring syndrome,” which presents with growth and development phenotypes and differs from those features more frequently observed with pure terminal copy number changes. Due to variability in mosaicism, size, and genomic content, clear genotype–phenotype correlations may not always be possible. Given the rarity of RCs, this historical data is invaluable. We performed a retrospective review of individuals bearing RCs to investigate the incidence in our laboratory. This work details the methods and features seen in association with twenty‐three autosomal RCs. In decreasing order, the most frequently seen autosomal RCs were 18, 22, 4, 13, 17, and 9. The additional cases detail clinical and cytogenomic events similar to those reported in RCs. As methodologies advance, insights may be gleaned from following up on these cases to improve genotype–phenotype correlations and understand the cryptic differences or other predisposing factors that lead to ring formation and development.

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Two different structural abnormalities of chromosome 13 in offspring of chromo‐somally normal parents with two fragile sites

Cited by 17 publications

References 10 publications

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

A new heritable fragile site at 15q13 in a three-generation family

Live‐born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center

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