A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome.

Ogilvie, Caroline Mackie; Raymond, F. Lucy; Harrison, R.H.; Scriven, Paul N.; Docherty, Zoe

doi:10.1136/jmg.35.3.234

Cited by 13 publications

(7 citation statements)

References 13 publications

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“…Engenheiro et al [] felt that exact mapping of deletions involving 4q25 with detailed phenotyping would help in the understanding of the role of contiguous genes in ARS. Previous reports focused on mapping the region for ARS, the clinical features in interstitial 4q25 deletions and the role of PITX2 in the phenotype [Mitchell et al, ; Chudley et al, ; Raczenbek et al, ; Fryns and Van Den Berghe, ; Vaux et al, ; Kulharya et al, ; Flomen et al, ; Schinzel et al, ; Ogilvie et al, ; Becker et al, ; Kamnasaran et al, ; Lines et al, ; de la Houssaye et al, ]. The role of contiguous gene deletion in ARS has been rarely discussed.…”

Section: Discussionmentioning

confidence: 99%

“…Twenty‐four patients with ARS have been described with deletions encompassing 4q25 [Mitchell et al, ; Chudley et al, ; Raczenbek et al, ; Fryns and Van Den Berghe, ; Vaux et al, ; Kulharya et al, ; Flomen et al, ; Schinzel et al, ; Ogilvie et al, ; Becker et al, ; Kamnasaran et al, ; Lines et al, ; de la Houssaye et al, ; Engenheiro et al, ; Tanwar et al, ; Moreira et al, ; Volkmann et al, ; Strehle et al, ]. Only seven had their deletions precisely characterized [Kamnasaran et al, ; Lines et al, ; Engenheiro et al, ; Moreira et al, ; Strehle et al, ].…”

Section: Introductionmentioning

confidence: 99%

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Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

Titheradge

Togneri

McMullan

et al. 2014

American J of Med Genetics Pt A

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Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder with variable expressivity. It is characterized by dysgenesis of the anterior segment of the eye together with dental, cardiac, and umbilical anomalies. There is a high incidence of secondary high tension glaucoma. It is a genetically heterogeneous condition due to deletion or mutations of FOXC1 (6p25) or PITX2 (4q25). We report on four unrelated patients with overlapping microdeletions encompassing PITX2 at 4q25. We compare the genotypes and phenotypes of these newly described ARS patients and discuss the involvement of contiguous genes. Patients 1, 2, and 3 had mild learning difficulties, not typically seen in patients with ARS. We implicate the adjacent neuronally expressed genes; NEUROG2, UGT8, NDST3, and PRSS12 as potentially causal. Our findings support the use of microarray analysis in ARS patients for full prognostic information in infants presenting with ARS-like phenotypes.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

Titheradge

Togneri

McMullan

et al. 2014

American J of Med Genetics Pt A

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“…More complicated complex chromosomal rearrangements encompass a wide theoretical range, but there are not many actual cases reported. Published complex chromosomal rearrangement cases included cases with 6 (Ogilvie et al 1998), 8 (Peschka et al 1999), 9 (Phelan et al 1998Joyce et al 1999), 10 (Muneer et al 1988, or 15 breakpoints (Houge et al 2003). Most of the complex chromosomal rearrangements are de novo rearrangements.…”

Section: Discussionmentioning

confidence: 99%

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement

et al. 2006

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Recently there has been an increased interest in large-scale genomic variation and clinically in the consequences of haploinsufficiency of genomic segments or disruption of normal gene function by chromosome rearrangements. Here, we present an extraordinary case in which both mother and daughter presented with unexpected chromosomal rearrangement complexity, which we characterized with array-CGH, array painting and multicolor large insert clone hybridizations. We found the same 12 breakpoints involving four chromosomes in both mother and daughter. In addition, the daughter inherited a microdeletion from her father. We mapped all breakpoints to the resolution level of breakpoint spanning clones. Genes were found within 7 of the 12 breakpoint regions, some of which were disrupted by the chromosome rearrangement. One of the rearrangements disrupted a locus, which has been discussed as a quantitative trait locus for fetal hemoglobin expression in adults. Interestingly, both mother and daughter show persistent fetal hemoglobin levels. We detail the most complicated familial complex chromosomal rearrangement reported to date and thus an extreme example of inheritance of chromosomal rearrangements without error in meiotic segregation.

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“…Characterization of CCRs, originally carried out on G‐banded chromosome analysis alone, has been facilitated by in situ hybridization techniques such as whole chromosome painting, and the use of locus‐specific probes, for instance, commercially available subtelomere probes [Mackie Ogilvie et al, 1998; Ogilvie et al, 1998]. However, these techniques neither identify intrachromosomal rearrangements, nor easily detect and/or characterize gains or losses of small regions of chromosomes.…”

Section: Introductionmentioning

confidence: 99%

Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI‐derived fetus with multiple abnormalities

Seller

Bint

Kavalier

et al. 2006

American J of Med Genetics Pt A

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We describe a fetus from an intracytoplasmic sperm injection (ICSI) pregnancy with severe facial clefts, receding jaw, preauricular skin tags, postaxial hexadactyly, bi-lobed right lung, supernumerary cranial bone, and dilated lateral ventricles of the brain. Using a combination of G-banding, fluorescence in situ hybridization (FISH), whole chromosome paints (WCPs), subtelomere probes, and multicolor banding (MCB), the karyotype was found to include a de novo unbalanced highly complex chromosome rearrangement (hCCR) involving chromosomes 3, 12, and 15 with seven breakpoints, and including monosomy for two separate regions of chromosome 12.

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A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome.

Cited by 13 publications

References 13 publications

Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement

Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI‐derived fetus with multiple abnormalities

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