Report of two cases of distal deletion of the long arm of chromosome 6

Stevens, Cathy A.; Fineman, Robert M.; Breg, W. Roy; Silken, Alan B.; Optiz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320290410

Cited by 30 publications

(20 citation statements)

References 7 publications

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“…In most cases the hypotonia persisted. However, in 4 cases hypotonia progressed to hypertonia [Rivas et al, 1986;Schwartz et al, 1984;Stevens et al, 1988]. Four patients were hypertonic at the time of the first reported evaluation [Cote et al, 1981;Narahara et al, 1991;Roland et al, 1993;Stevens et al, 1988].…”

Section: Discussionmentioning

confidence: 96%

“…Including case 3 we analyzed findings in 26 patients with terminal deletions of 6q [Bartoshesky et al, 1978;Dallapiccola et al, 1978;Fryns et al, 1986;Goldberg et al, 1980;Hagameijer et al, 1977;Ito et al, 1989;Kassikoff and Sekhon, 1990;Kueppers et al, 1977;Liberfarb et al, 1978;McLeod et al, 1990;Meng et al, 1992;Milošević and Kaličanin, 1975;Narahara et al, 1991;Oliveira-Duarte et al, 1990;Rivas et al, 1986;Scarsbrough et al, 1984;Shen-Schwartz et al, 1984;Stevens et al, 1988;Tajara et al, 1990;Tranebjaerg et al, 1986;Valtat et al, 1992]. Eight patients had breakpoints proximal to 6q25.…”

Section: Deletions: 6q25 To 6qter (Group C)mentioning

confidence: 97%

“…Despite 57 case reports of deletions of the long arm of chromosome 6, there is little indication in the literature of phenotypic correlations with deletions of specific regions of chromosome 6q [Bartoshesky et al, 1978;Bzdú ch and Lukáčová , 1989;Chery et al, 1989;Cote et al, 1981;Dallapiccola et al, 1978;DiLernia and Albertini, 1994;Fryns et al, 1986Fryns et al, , 1991 Gershonibaruch et al, 1996;Glover et al, 1988;Goldberg et al, 1980;Hagameijer et al, 1977;Horigome et al, 1991;Ito et al, 1989;Kassikoff and Sekhon, 1990;Kueppers et al, 1977;Liberfarb et al, 1978;Lonardo et al, 1988;Matkins et al, 1985;McLeod et al, 1990;McNeal et al, 1977;Meng et al, 1992;Mikkelsen et al, 1973;Milošević and Kaličanin, 1975;Nakagome et al, 1980;Narahara et al, 1991;Oliveira-Duarte et al, 1990;Pandya et al, 1995;Park et al, 1988;Rivas et al, 1986;Roland et al, 1993;Romie et al, 1996;Rose et al, 1992;Scarsbrough et al, 1984;Schwartz et al, 1984; ShenSchwartz et al, 1989; Schnizel, 1984; Slate et al, 1987;Stevens et al, 1988;Tajara et al, 1990;Tranebjaerg et al, 1986;Turleau et al, 1988;…”

Section: Introductionmentioning

confidence: 96%

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New insights into the phenotypes of 6q deletions

Hopkin

Schorry²,

Bofinger³

et al. 1997

Am. J. Med. Genet.

103

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Deletions of chromosome 6q are rare. We report 3 new patients with 6q deletions. Case 1 is a male with an interstitial deletion [del(6)(q13q14.2)], hypotonia, speech delays, and minor anomalies. Case 2 is a male with an interstitial deletion [del(6)(q16.2q22.32)] and malformations, including truncus arteriosus and bilateral oligodactyly. Case 3 is a male with a terminal deletion [del(6)(q25.2)] with retinal pits, hydrocephalus, atrioventricular canal, and hydronephrosis. The findings in our patients and those from 57 previously reported cases demonstrated 3 phenotypic groups associated with 6q deletions. Group A [del(6)(q11-q16)] had a high incidence of hernias, upslanting palpebral fissures, and thin lips with lower frequency of microcephaly, micrognathia, and heart malformations. Group B [del(6)(q15-q25)] was associated with increased intrauterine growth retardation, abnormal respiration, hypertelorism, and upper limb malformations. Group C [del(6)(q25-qter)] was associated with retinal abnormalities, cleft palate, and genital hypoplasia. The only universal finding among all patients with 6q deletions was mental retardation. Other findings common to all 3 groups included ear anomalies (90%), hypotonia (82%), and postnatal growth retardation (68%).

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Section: Discussionmentioning

confidence: 96%

Section: Deletions: 6q25 To 6qter (Group C)mentioning

confidence: 97%

Section: Introductionmentioning

confidence: 96%

See 1 more Smart Citation

New insights into the phenotypes of 6q deletions

Hopkin

Schorry²,

Bofinger³

et al. 1997

Am. J. Med. Genet.

103

View full text Add to dashboard Cite

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“…Deletion of the long arm of chromosome 6 Distal deletions including terminal deletions of the long arm of chromosome 6 are associated with seizures in ∼25% (five of 20) of cases (79)(80)(81)(82)(83). Interstitial deletions of the long arm of chromosome 6 were few, and seizures were mentioned in three cases (84)(85)(86).…”

Section: Chromosomementioning

confidence: 99%

“…Age at onset of seizures ranged from 4 months to 10 years. In five instances, generalized seizures were described (80)(81)(82)(83). The EEG was reported as showing hypsarrhythmia in one case (81).…”

Section: Chromosomementioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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Chromosome 6q deletions: A report of two additional cases and a review of the literature

et al. 1990

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Here we report on two additional cases of distal 6q deletions with one case showing a terminal deletion of chromosome 6 (46,XY, del(6)(pter----q26:)) and one case showing an interstitial deletion of chromosome 6 (46,XY, del(6)(pter----q23::q25----qter)). The association of retinal abnormalities in 6q deletions is supported, and the additional manifestations of skin hyperextensibility, sacral abnormality, and imperforate anus are described.

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Report of two cases of distal deletion of the long arm of chromosome 6

Cited by 30 publications

References 7 publications

New insights into the phenotypes of 6q deletions

New insights into the phenotypes of 6q deletions

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Chromosome 6q deletions: A report of two additional cases and a review of the literature

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