Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature

Schwartz, Marcia; Kaffe, Sara; Wallace, Sibylle; Desnick, R. J.

doi:10.1111/j.1399-0004.1984.tb01106.x

Cited by 28 publications

(6 citation statements)

References 10 publications

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“…The five previously reported individuals with seizures had cytogenetically defined deletions that overlapped at 6q22.2q22.32 [12,14,22,68,69], while four individuals have been reported with EEG abnormalities without seizures and molecularly defined deletions involving 6q16, though they do not all overlap each other [1,7,16] (Fig. 2a).…”

Section: Seizures In 6q Deletionsmentioning

confidence: 91%

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Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

et al. 2012

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Interstitial deletions of 6q are associated with variable phenotypes, including growth retardation, dysmorphic features, upper limb malformations, and Prader-Willi (PW)-like features. Only a minority of cases in the literature have been characterized with high resolution techniques, making genotype-phenotype correlations difficult. We report 12 individuals with overlapping, 200-kb to 16.4-Mb interstitial deletions within 6q15q22.33 characterized by microarray-based comparative genomic hybridization to better correlate deletion regions with specific phenotypes. Four individuals have a PW-like phenotype, though only two have deletion of SIM1, the candidate gene for this feature. Therefore, other genes on 6q may contribute to this phenotype including multiple genes on 6q16 and our newly proposed candidate, the transcription cofactor gene VGLL2 on 6q22.2. Two individuals present with movement disorders as a major feature, and ataxia is present in a third. The 4.1-Mb 6q22.1q22.2 critical region for movement disorders includes the cerebellar-expressed candidate gene GOPC. Observed brain malformations include thick corpus callosum in two subjects, cerebellar vermal hypoplasia in two subjects, and cerebellar atrophy in one subject. Seven subjects' deletions overlap a ~250-kb cluster of four genes on 6q22.1 including MARCKS, HDAC2, and HS3ST5, which are involved in neural development. Two subjects have only this gene cluster deleted, and one deletion was apparently de novo, suggesting at least one of these genes plays an important role in development. Although the phenotypes associated with 6q deletions can vary, using overlapping deletions to delineate critical regions improves genotype-phenotype correlation for interstitial 6q deletions.

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Section: Seizures In 6q Deletionsmentioning

confidence: 91%

“…Subject 3 has a progressive tremor. Other individuals have been reported with interstitial 6q deletions and ataxia or myopathy [2, 16,17,19,22,68,69], most of whom also had either seizures or a PW-like phenotype (Fig. 5).…”

Section: Movement Disorders In 6q Deletionsmentioning

confidence: 97%

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

et al. 2012

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“…In this review, we excluded patients reported here with partial trisomies (due to a parental translocation) in addition to the 6q monosomy, and we excluded reports with insufficient data to allow clinical comparison. A total of 16 patients with a terminal 6q deletion could be reviewed (Dallapiccolla et al 1978, Kueppers et al 1977, Goldberg et al 1980, Shen-Schwartz et al 1989, Meng et al 1992, Stevens et al 1988, mlosevic & Kalicanin 1975, Liberfarb et al 1978, Bartoshesky et al 1978, Rwas et al 1986, Krassikoff & Sekhon 1990, Valtat et al 1992, and McLeod et al 1990) and a total of 21 patients with an interstitial 6q deletion (Slater et al 1988, Lonardo et al 1988, McNeal et al 1977, Young et al 1985, Yamamoto et al 1986, Turleau et al 1988, Valtat et al 1992, Horigomo et al 1991, Nakagome et al 1980, Glover et al 1988, Chery et al 1989, Schwartz et al 1984, Cote et al 1981, Ito et al 1989, Bzduch & Lukacova 1989, Park et al 1988, Matkins et al 1987, McLeod et al 1990, Funs et al 1991, Braverman et a1 1993, Villa et a1 1995, Rose et a l 1992and Narahara et al 1991.…”

Section: Discussionmentioning

confidence: 99%

Deletion of the long arm of chromosome 6: two new patients and literature review

Evers¹,

Schrander-Stumpel²,

Engelen³

et al. 1996

Clinical Genetics

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Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46, XX, del(6)(q16.2q23.1)], and a boy with a terminal deletion [46, XY, del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.

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“…Deletions of the long arm of chromosome 6 are rare, and less than 30 patients with interstitial deletions involving the 6q21q22.1 region have been described to date (Schwartz et al, 1984;Young et al, 1985;Pandya et al, 1995;Correa-Cerro et al, 1996;Evers et al, 1996;Hopkin et al, 1997;Tsukahara et al, 1997;Duran-Gonzalez et al, 2007;Zherebtsov et al, 2007;Rosenfeld et al, 2012;Toschi et al, 2012;Hudson et al, 2014;Szafranski et al, 2015;Tassano et al, 2015;Milani et al, 2016;Shukla et al, 2016;Donahue and Rohena, 2017;Machida et al, 2022). Hopkin et al (1997) first classified deletions of the long arm of chromosome 6 into three groups, based on conventional cytogenetics, with different and recurrent phenotypes: group A, or proximal deletions (6q11q16), group B, or medial deletions (6q15q25), and group C, or terminal deletions (6q25qter) (Hopkin et al, 1997).…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

Minotti,

Graziani,

Sallicandro

et al. 2024

Front. Genet.

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Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray. Deletions involving 6q21q22.1 region are associated with an extremely wide and heterogeneous clinical spectrum, thus genotype–phenotype correlation based on the size of the rearranged region and on the involved genes is complex, even among individuals with overlapping deletions. Here we describe the phenotypic and molecular characterization of a new 6q interstitial deletion in a girl with developmental delay, intellectual disability, cerebellar vermis hypoplasia, facial peculiar characteristics, ataxia and ocular abnormalities. Microarray analysis of the proposita revealed a 7.9 Mb interstitial de novo deletion at 6q21q22.1 chromosomal region, which spanned from nucleotides 108,337,770 to 116,279,453 (GRCh38/hg38). The present case, alongside with a systematic review of the literature, provides further evidence that could aid to the definition of the Smallest Region of Overlap and of the genomic traits that are associated with particular phenotypes, focusing on neurological findings and especially on cerebellar anomalies.

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Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature

Cited by 28 publications

References 10 publications

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

Deletion of the long arm of chromosome 6: two new patients and literature review

Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

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