Mosaicism with a normal cell line and an autosomal structural rearrangement.

Gardner, R. J McKinlay; Dockery, Heather E; Fitzgerald, P. H.; Parfitt, R G; Romain, D R; Scobie, Nita N.; Shaw, Roxana; Tumewu, P.; Watt, A. J.

doi:10.1136/jmg.31.2.108

Cited by 38 publications

(40 citation statements)

References 34 publications

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“…To our knowledge, only 23 such cases have been reported. They include mosaicism for duplications [Harrod et al, 1980;Cantu and Ruiz, 1986;Serotkin et al, 1988;Blouin et al, 1991;Jewell et al, 1992;Dixon et al, 1993;Gardner et al, 1994], deletions [Wilson and Lin, 1988;Ritter et al, 1990;Patel et al, 1992;D'Alessandro et al, 1992;Finucane et al, 1993;Gordon et al, 1993;Sybert, 1994], insertions [Nielsen et al, 1978], isochromosomes [Robinow et al, 1989;Stanley et al, 1993;Sybert, 1994], and derivative chromosomes [Tsien et al, 1991;Powell et al, 1991;Pelligrino et al, 1995].…”

Section: Discussionmentioning

confidence: 99%

Mosaicism with a normal cell line and an unbalanced structural rearrangement

et al. 1999

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Section: Discussionmentioning

confidence: 99%

Mosaicism with a normal cell line and an unbalanced structural rearrangement

et al. 1999

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“…There have only been 2 previously reported cases of t(11; 22) mosaicism [Gardner et al,1994;Kurahashi et al, 2000b]. The first published case was the grandmother of a patient with Emanuel syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…The first published case was the grandmother of a patient with Emanuel syndrome. Her karyotype was 46,XX/46,XX,t(11; 22) with 38% normal cells and 62% cells with the translocation [Gardner et al, 1994]. The second published case was a female with the karyotype 46,XX/46,XX,t(11; 22) with 20% normal cells and 80% cells with the translocation [Kurahashi et al, 2000b].…”

Section: Discussionmentioning

confidence: 99%

The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event

Correll-Tash¹,

Conlin²,

Mininger³

et al. 2018

Cytogenet Genome Res

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The AT-rich repeat on chromosome 22q11.2 is known to be involved in the recurrent constitutional t(11;22)(q23;q11.2). Segregation of this translocation has been reported in several hundred families, but a de novo translocation event has been identified in only 8 cases, and everytime the translocation originated in paternal germ-line chromosomes. Further, de novo t(11;22) rearrangements have been detected in the sperm of healthy males, leading to the hypothesis that it occurs somewhere along the meiosis-spermatogenesis pathway. This report describes a woman whose constitutional karyotype revealed mosaicism for the recurrent t(11;22) and the subsequent testing performed to determine the origin of the translocation event. Karyotype analysis, translocation-specific PCR, human identity testing, and a SNP genotyping array were performed to detect mosaicism and/or chimerism. As a result, the SNP genotyping array revealed no evidence for mosaicism in genomic DNA beyond mosaicism for the balanced t(11;22). Human identity testing and the SNP genotyping array ruled out chimerism. PCR of the translocation breakpoint followed by sequencing confirmed that the translocation had occurred at the typical t(11;22) breakpoints. In conclusion, these results indicate that the translocation occurred post-fertilization, providing the first evidence of a de novo t(11;22)(q23;q11.2) occurring in a maternal mitotic environment.

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“…3,8 Until now, only 11 studies have described germinal mosaicism involving structural chromosomal aberration. [9][10][11][12][13][14][15][16][17][18][19] Indeed, five studies reported structural abnormality with a maternal mosaicism origin. 9,10,11,18,19 Engel et al 9 reported a familial pseudodicentric chromosome (5;21) occurring on maternal germline mosaicism as revealed by microsatellite marker analysis.…”

Section: Discussionmentioning

confidence: 99%

“…Germinal mosaicism is independent of maternal age. 2 Few studies in literature have described germinal mosaicism corresponding essentially to aneuploidies and structural chromosomal aberrations including mostly isochromosomes and deletions [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] (for review, see Röthlisberger and Kotzot 20 ).…”

Section: Introductionmentioning

confidence: 99%

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

et al. 2010

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A mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. Chromosomal germinal mosaicism occurs in germ cells before the onset of meiosis. Previously, few studies have described germinal mosaicism. In this study, we report on two siblings who carried identical pure and direct interstitial 4q22.2q32.3 duplication. Procedure investigations included complete clinical description, conventional cytogenetic analysis, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH) array experiments and microsatellite study searching for parental origin of the duplication. Microarray CGH and further FISH experiments with BAC clones showed the same 70.8 Mb direct duplication, dup(4)(q22.2q32.3). Molecular studies of the 4q duplication were consistent with maternal origin associated with mitotic or meiotic rearrangements. This structural chromosomal aberration was associated in both cases with increased nuchal translucency, growth retardation and dysmorphy. Cardiopathy and lung malformations were only evident in the first case. These clinical manifestations are similar to those previously reported in previous studies involving pure 4q trisomy of the same region, except for thumb and renal abnormalities that were not obvious in the presented cases. The amplified region included genes involved in neurological development (NEUROG2, MAB21L2, PCDH10/18 and GRIA2). The recurrent 4q duplication in these siblings is consistent with a maternal ovarian germinal mosaicism. This is the first description of germinal mosaicism for a large chromosomal duplication and highlights that genetic counselling for apparently de novo chromosome aberration should be undertaken with care.

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Mosaicism with a normal cell line and an autosomal structural rearrangement.

Abstract: Over three decades, 12 cases of mosaicism for an autosomal rearrangement were recognised in the major

Cited by 38 publications

References 34 publications

Mosaicism with a normal cell line and an unbalanced structural rearrangement

Mosaicism with a normal cell line and an unbalanced structural rearrangement

The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

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