Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter

Brasi, Daniele De; Rossi, Elena; Giglio, Sabrina; D’Agostino, Antonio; Titomanlio, Luigi; Farina, Vincenzo; Andria, Generoso; Sebastio, Gianfranco

doi:10.1002/ajmg.1589

Cited by 36 publications

(42 citation statements)

References 12 publications

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“…This patient has a karyotype similar to that previously described by De Brasi et al (2001) in a case with a classical phenotype of trisomy 1q42 → qter. According to Bartsch et al (2001) such rearrangements can be classified to the group IV of partial trisomy 1q carriers.…”

Section: Discussionsupporting

confidence: 56%

“…On the other hand, three of the six patients (Mewar et al, 1994;Bartsch et al, 2001) carry other, additional chromosomal imbalances in addition to a duplication in 1q, making the specific influence of this chromosomal region for assessment of the clinical phenotype more difficult. Accordingly, cases described by Mewar et al (1994) andDe Brasi et al (2001) show subterminal deletions -while case B described here does not.…”

Section: Discussionmentioning

confidence: 85%

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Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

Polityko

Starke²,

Rumyantseva³

et al. 2005

Cytogenet Genome Res

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In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolution multicolor banding (MCB) characterized the aberrations of the abnormal chromosomes 1 as a (sub)terminal duplication and inverted duplications, respectively. Although three different chromosomal regions i.e. 1p36.1, 1p36.2→1p31.3 and 1q41→1q44 were involved, all three patients had similar patterns of dysmorphic findings. These cases demonstrate the power of MCB in the characterization of small interstitial chromosomal aberrations and resulted in the characterization of three previously unreported congenital chromosome 1 rearrangements.

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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 85%

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

Polityko

Starke²,

Rumyantseva³

et al. 2005

Cytogenet Genome Res

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“…The studies on the inv dup(8p), a recurrent rearrangement associated with a rather characteristic syndrome, 9 revealed that it derives by nonallelic homologous recombination between lowcopy repeats. 7,8,10 Other examples of inv dup are those concerning 1q, 11,12 24 suggesting that the mechanism responsible for the inv dup(8p) can be generalized to all inverted duplications. In our inv dup(8q) case, we were not able to find any associated deletion distal to the last duplicated clone RP5-1109M23 nor any segmental duplication responsible for the occurrence of the inv dup(8q).…”

Section: Discussionmentioning

confidence: 99%

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype

et al. 2005

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Chromosome duplications are found in about 2% of subjects with a typical chromosomal phenotype but their frequency is likely to be higher, as suggested by the first array-CGH data. According to the orientation of the duplicated segment, duplications may be in tandem or inverted. The latter are usually associated with a distal deletion. We studied a de novo 2.3 Mb inverted duplication of 8q24.3 without apparently associated deletion in a subject with profound psychomotor retardation, idiopathic epilepsy and growth delay. In spite of its small size, the presence of the rearrangement was suspected on standard karyotypes (approximately 400 bands) and later confirmed by Fluorescent in situ hybridization (FISH) analysis. We hypothesize that the GRINA gene, a glutamate binding subunit of NMDA receptor ion channel lying within the duplicated segment, may be responsible for the epilepsy. This paper confirms that small subtelomeric de novo duplications may be responsible for mental retardation, facial dysmorphisms and/or congenital malformations, although their presence may be overlooked by FISH analysis.

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“…The best-known case is that of the inv dup(8p). 1,2 Other examples are those concerning 1q, 3,4 2q, 5 3p 6,7 4p, 8 5p, 9,10 9p, 11 10p and 10q, 12 18p 13 18q, 14 21q 15 and the X;X or the Y;Y rearrangements leading to duplications of parts of the short or the long arm with concomitant deletion. 16 It has been assumed 1,5 that the first product of the abnormal meiotic recombination on the basis of this type of rearrangement was a dicentric chromosome, either p-qHq-p or q-pHp-q.…”

Section: Introductionmentioning

confidence: 99%

Inverted duplications: how many of them are mosaic?

et al. 2004

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The best-known situation indissolubly linked to mosaicism is the uniparental disomy where a trisomic or monosomic zygote develops at least one cell line with 46 chromosomes. The mosaicism normal/abnormal cell lines may remain confined to placenta or persist in the embryo. Here, we describe a second situation that might also be indissolubly linked to a mosaic condition or at least to a confined placental mosaicism. We analysed the case of a mosaicism del(8p)/inv dup(8p) found in prenatal diagnosis. We had already demonstrated that the first product of the abnormal meiotic recombination at the basis of the inv dup rearrangements is a dicentric chromosome. Its breakage leads to the formation of a deleted and an inv dup chromosome. Although we had previously assumed that the dicentric underwent a breakage at meiosis II so that the zygote inherited the inv dup chromosome, our findings and those of others indeed indicate that the dicentric may be inherited in the zygote and that it might persist as such in early postzygotic stages, then undergoing different breakages in different cells leading to different abnormal chromosomes, either deleted or duplicated. Selection versus the most viable cell line(s) results either in a confined placental mosaicism with the inv dup cell line as the only one present in the embryo or in children with both the deleted and the inv dup cell lines. Phenotype/karyotype relationships in inv dup rearrangements must also take into account the influence of the other abnormal cell line during embryogenesis.

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Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter

Cited by 36 publications

References 12 publications

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype

Inverted duplications: how many of them are mosaic?

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