Chromosome 18 aberrations and epilepsy: A review

Grosso, Salvatore; Pucci, Lucia; Bartolo, Rosanna Maria Di; Gobbi, Giuseppe; Bartalini, G.; Anichini, Cecilia; Scarinci, R; Balestri, Martina; Farnetani, M. A.; Cioni, Maddalena; Morgese, G; Balestri, Paolo

doi:10.1002/ajmg.a.30575

Cited by 23 publications

(26 citation statements)

References 32 publications

(31 reference statements)

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“…For example, very early-onset partial seizures followed by infantile spasms and Rett-like behaviour may reveal CDKL5 gene mutation, 21 and focal seizures have been described in 18q-ter microdeletion syndrome. 22 Patterns of occipital seizures suggestive of Panayiotopoulos syndrome have been reported in cases of 6q-ter microdeletion. 23 Thus, karyotyping should be included in the screening of children with early-onset partial epilepsy for whom no lesion is identified on MRI.…”

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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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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“…Four cases had reproductive malformations or dysfunctions. Among the 4 cases, 3 had cryptorchidism [Grosso et al, 2005;Mabboux et al, 2007] and in one, pregnancy was terminated at 22 weeks because of the uncertain prognosis, without performing fetal necropsy [Plaja et al, 2013]. Our case did not have identical reproductive nor other symptoms included in these 12 cases.…”

Section: Discussionmentioning

confidence: 67%

47,XY,+der(X)t(X;18)(p11.4;p11.22): A Unique Aneuploidy Associated with Klinefelter Syndrome due to an Extra Derivative X Chromosome Inherited Maternally

Liang¹,

Zhang²,

Zhu

et al. 2015

Cytogenet Genome Res

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A derivative X chromosome formed by translocation involving an X chromosome and a chromosome 18 in a Klinefelter syndrome (KS) patient with a 47,XXY karyotype has not been reported before. In this study, we present the clinical and molecular cytogenetic characteristics. The patient presented with small testes and azoospermia. G-banding analysis identified the karyotype as 47,XY,del(X)(p?11.4). Array CGH detected a 10.36-Mb duplication of chromosome region 18p11.22p11.32 (14,316-10,377,516) and a 111.18-Mb duplication of chromosome region Xp11.4q28 (61,931, 689-155,111,583), in addition to the normal chromosome 18 and an X chromosome. FISH results further revealed the extra 18p located at the end of the short arm of a deleted X chromosome, forming a derivative X chromosome. Finally, we identified the karyotype of the patient as 47,XY,+der(X)t(X;18)(p11.4;p11.22). The derivative X chromosome was maternally inherited. To our knowledge, this rare karyotype has not yet been reported in the literature. The present study may suggest a novel karyotype associated with KS.

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“…Among the 31 previously published cases ( Table 1 ) [Jacobsen and Mikkelsen, 1968;Rosano et al, 1977;Meinecke and Koske-Westphal, 1981;Sujansky and Smith, 1981;Habedank and Trost-Brinkhues, 1983;Johansson et al, 1988;Guillaume et al, 2015]. Nine cases were due to duplication of 18p (from pter to cen) [Wolff et al, 1991;Moog et al, 1994;Li et al, 1998;Grosso et al, 2005;Marical et al, 2007] or an inversion duplication of 18p [Moog et al, 1994]. Three cases of trisomy 18p with a deletion of 18p and an extra isochromosome 18p [Taylor et al, 1975;Takeda et al, 1989;Orendi et al, 2013] and 8 cases associated with a supernumerary marker chromosome [Hernandez et al, 1979;San Martin et al, 1981;Mabboux et al, 2007;Rodriguez et al, 2007;Plaja et al, 2013] have been described.…”

Section: Discussionmentioning

confidence: 98%

Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability

Yang¹,

Jiang²,

Hu³

et al. 2019

Cytogenet Genome Res

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Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown origin. Chromosomal microarray analysis and FISH revealed a 14.9-Mb duplication of 18p and detected 3 centromeres of chromosome 18. To our knowledge, this is the first study reporting trisomy 18p due to an unbalanced translocation of 18p onto chromosome 15q showing 2-generation transmission. The results suggest that trisomy 18p can be considered a euchromatic variant.

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Chromosome 18 aberrations and epilepsy: A review

Cited by 23 publications

References 32 publications

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

47,XY,+der(X)t(X;18)(p11.4;p11.22): A Unique Aneuploidy Associated with Klinefelter Syndrome due to an Extra Derivative X Chromosome Inherited Maternally

Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability

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