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

2010 ◽  
Vol 152A (11) ◽  
pp. 2865-2869 ◽  
Author(s):  
Roberta Santos Guilherme ◽  
Vera de Freitas Ayres Meloni ◽  
Claudete Palmer Sodré ◽  
Denise Maria Christofolini ◽  
Renata Pellegrino ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 14 ◽  
Molecular Evaluation

scholarly journals Molecular evaluation of Chagas disease reactivation and treatment follow-up in HIV coinfected patients

2018 ◽  
Vol 73 ◽  
pp. 322
Author(s):  
M. Fernandez ◽  
S. Besuschio ◽  
D. Nicita ◽  
V. Latini ◽  
M.L. Biondi ◽  
...  
Keyword(s):  
Chagas Disease ◽  
Disease Reactivation ◽  
Molecular Evaluation

Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review

2018 ◽  
Vol 154 (4) ◽  
pp. 201-208 ◽  
Author(s):  
Shu Liu ◽  
Zhiqing Wang ◽  
Sisi Wei ◽  
Jinqun Liang ◽  
Nuan Chen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gray Matter ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 6 ◽  
Material Loss ◽  
Ring Chromosome 6

Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known.

scholarly journals Prospective Clinical and Molecular Evaluation of Potential Plasmodium ovale curtisi and wallikeri Relapses in a High-transmission Setting

2019 ◽  
Vol 69 (12) ◽  
pp. 2119-2126 ◽  
Author(s):  
Mirjam Groger ◽  
Luzia Veletzky ◽  
Albert Lalremruata ◽  
Chiara Cattaneo ◽  
Johannes Mischlinger ◽  
...  
Keyword(s):  
Prospective Study ◽  
Plasmodium Vivax ◽  
Direct Evidence ◽  
Plasmodium Ovale ◽  
Blood Clearance ◽  
Plasmodium Ovale Curtisi ◽  
Transmission Setting ◽  
Initial Blood ◽  
Molecular Evaluation

Abstract Background Plasmodium ovale curtisi and wallikeri are perceived as relapsing malarial parasites. Contrary to Plasmodium vivax, direct evidence for this hypothesis is scarce. The aim of this prospective study was to characterize the reappearance patterns of ovale parasites. Methods P. ovale spp. infected patients were treated with artemether-lumefantrine and followed biweekly for up to 1 year for the detection of reappearing parasitemia. Molecular analysis of reappearing isolates was performed to identify homologous isolates by genotyping and to define cases of relapse following predefined criteria. Results At inclusion, 26 participants were positive for P. ovale curtisi and/or P. ovale wallikeri. The median duration of follow-up was 35 weeks. Reappearance of the same P. ovale species was observed in 46% of participants; 61% of P. ovale curtisi and 19% of P. ovale wallikeri infection-free intervals were estimated to end with reappearance by week 32. Based on the predefined criteria, 23% of participants were identified with 1 or 2 relapses, all induced by P. ovale curtisi. Conclusion These findings are in line with the currently accepted relapse theory inasmuch as the reappearance of P. ovale curtisi strains following initial blood clearance was conclusively demonstrated. Interestingly, no relapse of P. ovale wallikeri was observed.

Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH

2009 ◽  
Vol 152A (1) ◽  
pp. 234-236 ◽  
Author(s):  
Anna Lisa Nucaro ◽  
Melania Falchi ◽  
Tiziana Pisano ◽  
Rossano Rossino ◽  
Francesca Boscarelli ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Unusual Case ◽  
Array Cgh ◽  
Ring Chromosome ◽  
Chromosome 14 ◽  
Genome Array

scholarly journals Ring Chromosome 14 Syndrome: Prenatal diagnosis of two cases with 45,XY,-14/46,XY,r(14)(p11.2q32)

2000 ◽  
Vol 2 (1) ◽  
pp. 94-94
Author(s):  
R T Schmidt ◽  
J B Ravnan ◽  
A N Lamb ◽  
M E Weinstein
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 14

scholarly journals Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

2008 ◽  
Vol 16 (10) ◽  
pp. 1187-1192 ◽  
Author(s):  
Dries Castermans ◽  
Bernard Thienpont ◽  
Karolien Volders ◽  
An Crepel ◽  
Joris R Vermeesch ◽  
...  
Keyword(s):  
Position Effect ◽  
Ring Chromosome ◽  
Chromosome 14

P31 – 2001 Refractory epilepsy and retinal involvement in a patient with ring chromosome 14

2013 ◽  
Vol 17 ◽  
pp. S62
Author(s):  
N Deconinck ◽  
A Diakogeorgiou ◽  
K Pelc ◽  
A Monnier ◽  
A Deleener ◽  
...  
Keyword(s):  
Refractory Epilepsy ◽  
Ring Chromosome ◽  
Chromosome 14

Ring Chromosome 20 with Nonconvulsive Status Epilepticus: Electroclinical Correlation of a Rare Epileptic Syndrome

2005 ◽  
Vol 36 (3) ◽  
pp. 151-160 ◽  
Author(s):  
Chaichon Locharernkul ◽  
Alois Ebner ◽  
Chinvorn Promchainant
Keyword(s):  
Status Epilepticus ◽  
Ring Chromosome ◽  
Nonconvulsive Status Epilepticus ◽  
Complex Partial Seizures ◽  
Thai Women ◽  
Verbal Stimuli ◽  
Chromosome 20 ◽  
History Of ◽  
Clonic Seizures

The electroclinical features of two Thai women with ring chromosome 20 and nonconvulsive status epilepticus (NCSE) were studied. Both have also had generalized tonic-clonic seizures and complex partial seizures of varying frequencies since adolescence. Their intellectual functions were normal. Twenty-four-hour video/EEG telemetry recorded during the NCSE showed fluctuating consciousness between overt unresponsiveness and normal awareness. The EEG consisted of long-lasting generalized rhythmic 3–5 Hz sharp or slow waves with a few spikes, lasting several days. Despite the continuous discharges, the patients had relatively subtle clinical episodes of seizures, during which they were sometimes responsive to verbal stimuli. Intravenous antiepileptic drugs (AED) had little effect on the rhythmic EEG. No lesion in their MRIs contributed to NCSE. Ring chromosome 20 was found in 20% of female karyotype in both patients [46,XX, r(20) (p13 q13)/46,XX] but were negative in four healthy siblings. Oral AEDs decreased more than 75% of the overt CPS episodes in both patients at 22 and 26 months of follow-up but had no effect on the natural history of electrical NCSE. The patients' daily activities were minimally affected by the ongoing electrical discharges. These are the first two cases reported of ring chromosome 20 with NCSE in Thailand. Our patients present a rather benign and pharmacologically responsive course probably because of the low percentage of r(20) mosaicism. The electroclinical correlations in our cases raise the possibility that the mechanism of continuous rhythmic waves in this syndrome may be unrelated to epilepsy. Assessing the severity of this syndrome using both clinical seizures and EEG is crucial.

scholarly journals Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report

2012 ◽  
Vol 6 (1) ◽  
Author(s):  
Roberta S Guilherme ◽  
Vera de FA Meloni ◽  
Sylvia S Takeno ◽  
Renata Pellegrino ◽  
Decio Brunoni ◽  
...  
Keyword(s):  
Case Report ◽  
Ring Chromosome ◽  
Chromosome 15

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

2008 ◽  
Vol 28 (1) ◽  
pp. 69-71 ◽  
Author(s):  
Geneviève Quenum-Miraillet ◽  
Valérie Malan ◽  
Jelena Martinovic ◽  
Férechté Encha-Razavi ◽  
Bernard Aral ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Skeletal Dysplasia ◽  
Ring Chromosome ◽  
Chromosome 14
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