Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum

Ono, Jiro; Nishiike, Kazuhiko; Imai, Katsunori; Otani, Kazumasa; Okada, Shintaro

doi:10.1016/s0887-8994(98)00099-x

Cited by 19 publications

(31 citation statements)

References 10 publications

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“…The relatively constant clinical feature of seizures may manifest in various forms [Schlade-Bartusiak et al, 2005;Ville et al, 2009;Zollino et al, 2009], and usually appears between 1 month and 4 years of age [Zelante et al, 1991;Shirasaka et al, 1992;Ono et al, 1999;Morimoto et al, 2003]. Also, both patients reported by Morimoto et al [2003] and Ono et al [1999] showed generalized tonic-clonic convulsions that are similar to our patient and others reported in the literature as drug resistant. Some ring 14 patients may have epilepsy without prominent psychomotor retardation or morphological features [Ville et al, 2009].…”

Section: Discussionsupporting

confidence: 84%

Cytogenetic and molecular evaluation and 20‐year follow‐up of a patient with ring chromosome 14

Guilherme

Meloni

Sodré

et al. 2010

American J of Med Genetics Pt A

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We present a 20-year follow-up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring chromosome. The patient had skeletal abnormalities, and susceptibility to infections, as well as seizures and retinal pigmentation, which are commonly found in individuals with a ring 14. Our patient corroborates the idea that even when no genes are lost during ring formation, a complete ring chromosome can produce phenotypic alterations, which presumably result from ring instability or gene silencing due to the new chromosomal architecture.

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Section: Discussionsupporting

confidence: 84%

Cytogenetic and molecular evaluation and 20‐year follow‐up of a patient with ring chromosome 14

Guilherme

Meloni

Sodré

et al. 2010

American J of Med Genetics Pt A

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“…Our literature review identified several cases with characteristics in common with the four cases reported here. 4,8,10,11,13 Data are summarized in Table I.…”

Section: Discussionmentioning

confidence: 99%

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

Ville¹,

Bellescize²,

Nguyen³

et al. 2009

Develop Med Child Neuro

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We report four infants (two males, two females) with ring 14 chromosome presenting with early‐onset partial epilepsy. The first seizure occurred between 3 and 6 months (3, 3, 4, and 6mo respectively). In all four cases, diagnosis was based on early focal seizures, rather than on psychomotor retardation or morphological features, which were not prominent at seizure onset. Moreover, despite the young age of the patients and the high frequency of seizures, neither epileptic spasms nor progression to ‘epileptic encephalopathy’, such as hypsarrhythmia, were observed. Epilepsy remained partial in these patients. At the most recent follow‐up, all four children had slight or mild psychomotor delay, and two of them had moderate non‐specific dysmorphic traits. Data from the literature about epilepsy in ring 14 chromosome syndrome were also reviewed. Ring 14 chromosome syndrome may be revealed by isolated, early‐onset focal epilepsy suggestive of focal lesions with only mild mental retardation and morphological features at the time of diagnosis. The characteristics of these observations differ from classic ring 14 syndrome, and may enlarge this clinical spectrum. Many unanswered questions remain concerning phenotype–genotype correlation and identification of the potential genes and molecular mechanisms responsible for epilepsy in patients with ring 14 syndrome.

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“…The seizures reported in r(14) are of various types. They can be generalized, partial and mixed type, occur very early (between 1 month and 4 years of age) and are often intractable [Zelante et al, 1991;Shirasaka et al, 1992;Ono et al, 1999;Morimoto et al, 2003].…”

Section: Introductionmentioning

confidence: 99%

FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures

Schlade-Bartusiak

Costa

Summers

et al. 2005

American J of Med Genetics Pt A

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Ring chromosome 14 is a rare cytogenetic disorder. Individuals with r(14) generally have developmental delay and seizures. Other features include hypotonia, microcephaly, mild facial dysmorphism, and retinal pigmentation. Most of these features are also found in patients with linear terminal deletions of chromosome 14, except for seizures and retinal abnormalities. The objective of the study was to determine if deletion of a specific chromosome region is a possible explanation for the occurrence of seizures in patients with ring chromosome 14. Patients diagnosed either with r(14) (six patients) or a deletion of distal 14q (three patients) were analyzed by FISH (fluorescence in situ hybridization) with BAC probes. We observed differences in the size of deletions in the studied group. In two r(14) patients, we did not detect any deletion; the four other patients had deletions of various sizes, ranging from 0.8 Mb to 5 Mb. Two linear deletions were 3.2 Mb and 5.3 Mb in length, respectively; the third case had an interstitial deletion that did not overlap with the others. The deleted regions in ring chromosomes showed overlap with those in the two linear terminal deletions. We conclude that there is unlikely to be a specific deleted locus in 14q32.3 that predisposes r(14) patients to seizures or retinal pigmentation. The cause is probably related to the formation of the ring itself and the effect this may have on local chromatin structure.

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Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum

Cited by 19 publications

References 10 publications

Cytogenetic and molecular evaluation and 20‐year follow‐up of a patient with ring chromosome 14

Cytogenetic and molecular evaluation and 20‐year follow‐up of a patient with ring chromosome 14

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures

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