Interstitial deletion of the long arm of chromosome 11.

Pater, J. M. Klep-de; France, H F de; Bijlsma, J. B.

doi:10.1136/jmg.22.3.224

Cited by 21 publications

(23 citation statements)

References 4 publications

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“…A few cases of interstitial 11q deletions have also been reported. The cases reported by Sorensen et al [1979]; McPherson and Meissner [1982]; Bateman et al [1984]; Klep-de Pater et al [1985], and Carnevale et al [1987] did not have mental retardation (Table II). However, the cases reported by Taillemite et al [1975], Guc-scekic et al [1989], and Stratton et al [1994] did.…”

Section: Discussionmentioning

confidence: 81%

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

Zárate

Kogan

Schorry

et al. 2007

American J of Med Genetics Pt A

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A new case of 11q interstitial duplication is reported in a patient with mild dysmorphic features but normal development. Chromosome analysis revealed a de novo 11q dup(11)(q14.1q21) on G banding and FISH studies. Additional molecular genetic studies revealed a similar but more distal duplication at the level of 11q21q23.1. Previous cases of isolated 11q duplication that overlapped with this case were associated with a wide variety of clinical findings and variable developmental disability. These cases all included additional material not duplicated in this patient. The current case represents the first de novo case of 11q duplication with normal development suggesting that the segment between 11q14.1 and 11q21 contains few genes that are dose sensitive. Review of other cases that have used conventional cytogenetic resolution studies suggests that the band 11q13.5 may contain genes contributing to the developmental disabilities in the cases previously reported with proximal 11q duplication. Differences between conventional cytogenetic techniques and newer molecular genetic studies are expected. These newer techniques will help refine prognosis and counseling for families in the future.

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Section: Discussionmentioning

confidence: 81%

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

Zárate

Kogan

Schorry

et al. 2007

American J of Med Genetics Pt A

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“…In contrast, interstitial deletions of 11q are less common and often not fine-mapped, due to the similarity between two band patterns (11q14 and 11q22) when conventional karyotyping is performed [1,2]. Furthermore, no clear genotype-phenotype correlations have been proposed in reported patients.…”

Section: Discussionmentioning

confidence: 99%

Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

et al. 2011

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BackgroundExcept for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed.ResultsHere we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. In contrary, array-CGH analysis indicated a small deletion of 11q22.3.DiscussionTo our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in the features described.

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“…The critical region compatible with the typical 1 lq terminal deletion syndrome is thought to be a subband of 11@4.1 (Fryns et al, 1986). On the other hand, there have been some cases of an interstitial deletion of llq (q13-q23), and they showed less pronounced or absent signs of the l lq terminal deletion syndrome (Taillemite et al, 1975;Sorensen et al, 1979;McPherson and Meissner, 1982;Taki et al, 1983;Bateman et aL, 1984;Klep-de Pater et al, 1985;Carnevale et al, 1987;Okamura et aL, 1988). Table 2 shows a review of the clinical features of the patients with interstitial deletion of l lq, including ours, and a comparison of those with the 1 lq terminal deletion syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…To date, at least 8 patients with an interstitial deletion of chromosome llq (llq13-q23) have been documented (Taillemite et al, 1975;Serensen et al, 1979;McPherson and Meissner, 1982;Taki et al, 1983;Bateman et al, 1984;Klep-de Pater et al, 1985;Carnevale et al, 1987;Okamura et a[., 1988). Here we report a patient with an interstitial deletion of 1 lq14 to q22.…”

Section: Introductionmentioning

confidence: 99%