De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder

Lespinasse, James; Bugge, Merete; Rethoré, M O; North, Marie-Odile; Lundsteen, Claes; Kirchhoff, Maria

doi:10.1002/ajmg.a.30064

Cited by 11 publications

(4 citation statements)

References 21 publications

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“…4 . otic multivalent confi guration whose resolution resulted in this highly chaotic CCR (Houge et al, 2003). Indeed, the remarkable complexity of the present case agrees with the observation by other authors (Astbury et al, 2004;Lespinasse et al, 2004;Vermeulen et al, 2004;Borg et al, 2005;Gribble et al, 2005) that CCRs may actually be more complex than they seem when further characterized by sophisticated molecular cytogenetic techniques such as array-painting and micro-array CGH. That the 2q32 and 3q13 partial insertions were overlooked after hybridization with the chromosome 11 WCP can mainly be attributed to an excess of signal that obscured these relatively small insertions.…”

Section: Discussionsupporting

confidence: 80%

A highly complex rea(2;3;11) and aniridia by position effect

Rivera

Ayala-Madrigal

Barros-Núñez

et al. 2006

Cytogenet Genome Res

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A two-year-old boy presenting with bilateral aniridia and psychomotor retardation had a de novo (2;3;11) highly complex rearrangement which was characterized as far as possible by means of G-banding and FISH assays with multiple probes including cosmids for the Wilms, Aniridia, Genital anomalies and Retardation (WAGR) region, alphoid repeats for chromosomes 2, 3 and 11, subtelomere probes for 2p/2q, 3p/3q and 11q and BACs for 2q32 and 3q13. We identified ∼15 breakpoints with at least three interchromosomal and three intrachromosome anomalies involving chromosome 11. Both parents had normal karyotypes and no cryptic 11p rearrangements revealed by the chromosome 11 cosmid panel. The lack of a deletion of PAX6 pointed to the direct insertion of an ∼300-kb segment involving the cosmids FO2121 and AO4160, and more specifically the insertion’s proximal breakpoint in the ∼150-kb segment between FO2121 and FAT5 (PAX6), as the responsible factor for the patient’s aniridia via a position effect resulting in functional haploinsufficiency of the PAX6 gene. This case illustrates the importance of recognizing that de novo complex chromosomal rearrangements found in patients with diverse clinical features may contribute to the phenotype, but that multiple mechanisms and higher levels of complexity may be unmasked by high resolution molecular cytogenetic studies.

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Section: Discussionsupporting

confidence: 80%

A highly complex rea(2;3;11) and aniridia by position effect

Rivera

Ayala-Madrigal

Barros-Núñez

et al. 2006

Cytogenet Genome Res

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“…In standard clinical practice, this characterization is usually achieved by conventional cytogenetic approaches only, thus submicroscopic imbalances at the breakpoints will remain undetected because of the low resolution of such approaches. Recently, the use of high-resolution molecular techniques such as array-based comparative genomic hybridization (array CGH) have contributed to a growing awareness of the presence of CCRs and cryptic imbalances in patients with MR and/or congenital anomalies (Vissers et al 2003; Weise et al 2003; Lespinasse et al 2004; Patsalis et al 2004; Shaw-Smith et al 2004; Vermeulen et al 2004; Borg et al 2005; de Vries et al 2005; Chen et al 2006; Gajecka et al 2006; Karmous-Benailly et al 2006). Although molecular mechanisms have been studied in recurrent, simple rearrangements, the role of genomic architecture underlying the occurrence of nonrecurrent CCRs, remains as yet poorly understood because until recently detailed identification of the exact breakpoints was lacking.…”

Section: Introductionmentioning

confidence: 99%

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

et al. 2007

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“…The determined complex karyotype arises from the initial presumption of a much simpler event. No imbalance resulting from the CCR event was detected by FISH and array CGH, and only a few cases of CCR were found to be associated with deletions in the literature (Lespinasse et al, 2004). Only a few genes seem to be affected but the complexity of the rearrangement in our patient prevents reliable phenotype-ge notype correlations and although the deletion is also present in the clinical normal father, a contribution to the phenotype cannot be excluded.…”

Section: Resultsmentioning

confidence: 75%

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development

Ullmann

Schubert

Ledinegg³

et al. 2006

Cytogenet Genome Res

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We report on a currently six-year-old patient with a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12. A translocation 2;12 that appeared to be reciprocal after standard banding turned out to be a complex event with seven breaks after molecular cytogenetic analyses. Array CGH analysis showed no imbalances at the breakpoints but revealed an additional microdeletion of about 80 kb on chromosome 11. The same deletion was also present in the phenotypically normal father. The patient showed relatively mild mental retardation, defined mainly as impaired speech development (orofacial dyspraxia) and psychomotor retardation. In addition, mild dysmorphic facial features like hypertelorism, a prominent philtrum and down-turned corners of the mouth were observed. We narrowed down all breakpoint regions to about 100 kb, using a panel of mapped bacterial artificial chromosome (BAC) clones for fluorescence in situ hybridization (FISH). BACs spanning or flanking all seven breakpoints were identified and no chromosomal imbalances were found consistent with the array CGH results. Our investigations resulted in the following karyotype: 46,XY,t(2;12)(2pter→2p25.3::2p23.3→2p25.2::2p23.3→2p14::2q14.3→2p14::2q14.3→2q14.3::12q 12→12qter;12pter→12q12::2p25.3→2p25.2::2q14.3→2qter).

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De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder

Cited by 11 publications

References 21 publications

A highly complex rea(2;3;11) and aniridia by position effect

A highly complex rea(2;3;11) and aniridia by position effect

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development

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