Original ArticlesRing chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum
Introduction
More than 40 patients with ring chromosome 14 have been reported since the first description by Gilgenkrantz et al. [1] in 1971 [2], [3]. It is well known that patients with ring chromosome 14 have fairly constant dysmorphic characteristics and clinical features, including mental retardation and epilepsy. Until Shirasaka et al. [4] reported a patient demonstrating complex partial seizures, the seizures in this disorder were considered to be exclusively generalized. The cause of epilepsy in ring chromosome 14 is not known.
The authors describe a male having mosaicism of ring chromosome 14 and chromosome 14 monosomy, complex partial seizures, and hypoplastic corpus callosum.
Section snippets
Case report
A 2-year-old Japanese male, the second child of healthy and nonconsanguineous parents, was born weighing 2,460 gm after an uneventful 38-week pregnancy. The delivery was also uneventful. During the neonatal period, he had pneumonia and was admitted to a hospital for 1 month. A combination of minor anomalies, including microcephalus, downward slanting palpebral fissures, epicanthal folds, flat nasal bridge, upturned nostrils, and short neck, suggested the presence of a chromosomal abnormality.
Discussion
Patients with ring chromosome 14 share common clinical manifestations, including mental and motor retardation, seizures, and characteristic combinations of minor anomalies [1], [2], [3]. It is said that the manifestations of ring chromosome 14 contribute to the terminal deletion of long arm, most probably distal to band 14q32 [5]. However, partial deletion of 14q was reported in six patients, and they lacked constant clinical characteristics [6]. The difference in manifestations between these
References (15)
- et al.
Ring 14 chromosome with complex partial seizuresA case report
Brain Dev
(1992) - et al.
Localization and genetic linkage of the human immunoglobulin heavy chain genes and the creatine kinase brain (CKB) geneIdentification of a hot spot for recombination
Genomics
(1991) - et al.
Le syndrome Dr. Etude d’un nouveau cas (46, XX, 14r)
Ann Genet
(1971) - et al.
Transmission of ring 14 chromosome from mother to sons
Am J Med Genet
(1990) - et al.
Ring chromosome 14 syndromeReport of two cases, including extended evaluation of a previously reported patient and review
Ann Genet
(1991) - et al.
Ring chromosome 14A distinct clinical entity
J Genet Hum
(1983) - et al.
A terminal deletion (14) (q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation
J Med Genet
(1989)
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Epilepsy in ring 14 chromosome syndrome
2012, Epilepsy and BehaviorCitation Excerpt :Electroencephalogram pattern is even more variable than seizure semiology. Ictal recordings have been reported [16,21,22,25,28,29] and findings are heterogeneous, as in our cases. The occurrence of either diffuse or focal discharges is not surprising in epilepsies related to chromosomal abnormalities.
A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia
2009, European Journal of Medical GeneticsCitation Excerpt :Three cases [15,18] in the literature present an association between a 14q deletion and corpus callosum hypoplasia. Nevertheless, in the first case [15], the cytogenetic aberration is a ring chromosome 14 in which the deletion is telomeric and does not overlap the deletion of our patient (Fig. 3). In the second and third cases [18] the deletions are telomeric and also do not overlap our patient deletion so there is no common region between the three patients and our case (Fig. 3).
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation
2020, Cytogenetic and Genome ResearchGuideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force
2017, Orphanet Journal of Rare DiseasesRing chromosome 14 syndrome presenting with intractable epilepsy: A case report
2013, Turkish Journal of Pediatrics