Trisomy 2q11.2--&gt;q21.1 resulting from an unbalanced insertion in two generations.

Glass, Ian A.; Stormer, Peter; Oei, Paul; Hacking, Ethel; Cotter, Philip D.

doi:10.1136/jmg.35.4.319

Cited by 18 publications

(23 citation statements)

References 25 publications

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“…Of the duplications that overlap with the triplication presented here, some patients shared features with the present patient while all had developmental delay or died in the perinatal period before developmental delay would be manifest (Wang et al, 1979;Mu et al, 1984;Lanman et al, 1986;Cooke et al, 1995;Glass et al, 1998;Wang et al, 1999;Riegel et al, 2002;Wenger et al, 2004;Ounap et al, 2005). By contrast, our patient was originally ascertained for infertility and has had normal development into adulthood.…”

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confidence: 49%

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH

Mercer

Browne

Barber³

et al. 2009

Cytogenet Genome Res

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We report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with infertility. She has an intrachromosomal triplication of bands 2q12.3 to 2q13, with inversion of the central segment, which arose de novo from a paternal interchomosomal event. The triplication contains 68 known genes within the 7.28 Mb of DNA between base pairs 107,140,721 and 114,416,131. All intrachromosomal triplications are rare and, while partial duplications of 2q have been previously described, this patient is a unique surviving case of a triplication of proximal 2q.

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confidence: 49%

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH

Mercer

Browne

Barber³

et al. 2009

Cytogenet Genome Res

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“…There have been four reports describing an association of CPO or Pierre Robin sequence, with either duplication or triplication of chromosome 2q13-q21 (Table II) [Lanman et al, 1986;Wang et al, 1999;Wegner et al, 2004;this report]. Another report has associated Pierre Robin sequence with larger duplications including the 2q13-q21 area [Glass et al, 1998]. Thus, we suggest the possibility that the overexpression of a gene(s) on chromosome 2q13-q21 may cause CPO and the Pierre Robin sequence.…”

Section: Discussionmentioning

confidence: 71%

“…Cytogenetic and FISH analysis showed a duplication of 2q13-q22. There have been only nine previous reports on a total of 10 patients with a pure duplication or triplication of the proximal chromosome 2q [Wang and Hunter, 1979;Mu et al, 1984;Lanman et al, 1986;Grevengood et al, 1993;Cooke et al, 1995;Glass et al, 1998;Wang et al, 1999;Riegel and Schinzel, 2002;Wegner et al, 2004]. Due to the variable clinical features and chromosomal breakpoints, no common pattern of a proximal duplication 2q syndrome could be defined from these cases, not even from the patients in whom breakpoints presumably were very similar [Riegel and Schinzel, 2002].…”

Section: Discussionmentioning

confidence: 99%

“…Thus, we suggest the possibility that the overexpression of a gene(s) on chromosome 2q13-q21 may cause CPO and the Pierre Robin sequence. The case of CL/P [Riegel and Schinzel, 2002] (1) Wang and Hunter [1979]; (2) Mu et al [1984]; (3) Lanman et al [1986]; (4) Grevengood et al [1993]; (5) Cooke et al [1995]; (6-7) Glass et al [1998]; (8) Wang et al [1999]; (9) Riegel and Schinzel [2002]; (10) Wegner et al [2004].…”

Section: Discussionmentioning

confidence: 99%

“…Pure duplications/triplications of the proximal part of chromosome 2q have been rare. To our knowledge, only ten patients have been reported on [Wang and Hunter, 1979;Mu et al, 1984;Lanman et al, 1986;Grevengood et al, 1993;Cooke et al, 1995;Glass et al, 1998;Wang et al, 1999;Riegel and Schinzel, 2002;Wegner et al, 2004]. Clinical signs were variable and no specific 2q duplication syndrome could be defined so far [Bird and Mascarello, 2001;Riegel and Schinzel, 2002].…”

Section: Introductionmentioning

confidence: 99%

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A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13‐q21

Õunap

Ilus

Laidre³

et al. 2005

American J of Med Genetics Pt A

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We report on a pure duplication of the proximal chromosome 2q in a 6.5‐year‐old boy with V‐shaped midline cleft palate and bifid uvula, posteriorly located tongue, and micrognathia (Pierre Robin sequence), celiac disease, failure to thrive, and developmental delay. Cytogenetic and FISH analysis indicated a duplication of chromosome 2q13‐q22. In general, pure proximal duplication or triplication of 2q is rare. The clinical features and chromosomal breakpoints of the 10 previously reported patients varied, and no common phenotype or proximal duplication/triplication 2q syndrome could be defined to date. However, based on four previous patients with different orofacial clefts and our case, a locus for orofacial clefting may be located at proximal 2q. The duplication/triplication comprised chromosome 2q13 in all five affected individuals including our patient. Our patient and three previous cases (two with cleft palate only (CPO) and one with cleft lip/palate (CL/P)) showed a cytogenetic breakpoint at 2q13, which could support the presence of a critical dominant gene disrupted by a common breakpoint, however, the fifth case with CPO showed different breakpoints, advocating against the disruption of a critical dominant gene and supporting that the overexpression of a gene(s) on chromosome 2q13‐q21 may cause cleft palate only (CPO) and Pierre Robin sequence. Hence, our findings support either the presence of one locus for orofacial clefting (CL/P, CPO, and Pierre Robin sequence) between markers D2S1897 (chromosome 2q12.2) and D2S2023 (chromosome 2q14.2), or alternatively the presence of a locus for CPO and Pierre Robin sequence on chromosome 2q13‐q21. © 2005 Wiley‐Liss, Inc.

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Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: Case report and review of triplications and their possible mechanism

et al. 1999

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A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resulting in tetrasomy for this segment. The middle repeat was inverted. At least 11 patients with intrachromosomal triplications have been reported, mostly involving chromosome 15q. The mechanism involved in formation of these rearrangements is compatible with U-type exchange events among three chromatids.

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Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Abstract: (Med Genet 1998;35:319-322)

Cited by 18 publications

References 25 publications

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13‐q21

Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: Case report and review of triplications and their possible mechanism

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