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

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 234-236

  Nucaro, Anna Lisa ^a   Falchi, Melania ^b   Pisano, Tiziana ^b   Rossino, Rossano ^b   Boscarelli, Francesca ^c   Stoico, Giusi ^d   Milia, Angela ^c   Montaldo, Caterina ^c   Cianchetti, Carlo ^b   Pruna, Dario ^b  

^a CNR   (Italy)

^b DEPARTMENT OF RADIOLOGY   (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d Technogenetics Bouty Company   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PHENOBARBITAL; VALPROIC ACID; SODIUM CALCIUM EXCHANGE PROTEIN;

CHILD; CHROMOSOME 14; CHROMOSOME ANALYSIS; CHROMOSOME PAINTING; DEVELOPMENTAL COORDINATION DISORDER; DYSTONIA; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC STATE; EYE MOVEMENT DISORDER; FEBRILE CONVULSION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GROWTH RETARDATION; HUMAN; HYPERTELORISM; LETTER; MACROSOMIA; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROCEPHALY; MICROGNATHIA; MICROPENIS; MOSAICISM; MUSCLE HYPOTONIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RECURRENT DISEASE; RETROGNATHIA; SEIZURE; TONIC CLONIC SEIZURE; CASE REPORT; CHROMOSOME BAND; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CIRCADIAN RHYTHM; CLINODACTILY; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAPHY; EPICANTHUS; HUMAN CELL; INFANT; LIP MALFORMATION; MICRORETROGNATHIA; NECK MALFORMATION; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; RING CHROMOSOME; SHORT PHILTRUM;

CHROMOSOMES, HUMAN, PAIR 14; DEVELOPMENTAL DISABILITIES; EPILEPSY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; NUCLEIC ACID HYBRIDIZATION; RING CHROMOSOMES;

EID: 75149192228     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33167     Document Type: Letter

References (14)

1. Gabellini N, Bortoluzzi S, Danieli G, Carafoli E. 2002. The human SLC8A3 gene and tissue-specific Na+/Ca++ exchanger 3 isoforms. Gene 298:1-7.
2. Geisinger A, Alsheimer M, Baier A, Benavente R, Wettstein R. 2005. The mammalian gene pecanex 1 is differentially expressed during spermatogenesis. Biochim Biophys Acta 1728:34-43.
3. Gilgenkrantz S, Cabrol C, Lausecker C, Hartleyb ML, Bohe B. 1971. [The Dr syndrome. Study of a further case (46, XX, 14r)]. Le syndrome Dr: Etude d'un nouveau cas (46, XX, 14r). Ann Genet 14:23-31.
4. Knijnenburg J, Haeringen A, Hansson K, Lankester A, Smit M, Belfroid R, Bakker E, Rosenberg C, Tanke H, Szuhai K. 2007. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet 15:548-555.
5. Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF. 2003. Childhood absence epilepsy and febrile seizures: A family with a GABA(A) receptor mutation. Brain 126:230-240.
6. Morimoto M, Usuku T, Tanaka M, Otabe O, Nishimura A, Ochi M, Takeuchi Y, Yoshioka H, Sugimoto T. 2003. Ring chromosome 14 with localization related epilepsy: Three cases. Epilepsia 44:1245-1249.
7. Ono J, Nishiike K, Imai K, Otani K, Okada S. 1999. Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. Pediatr Neurol 20:70-72.
8. Sander T, Schule H, Saar K, Gennaro E, Riggio MG, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn-Nolst-Trenite DG, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A. 2000. Genome search for susceptibility loci ofcommon idiopathic generalized epilepsies. Hum Mol Genet 9:1465-1472.
9. Schlade-Bartusiak K, Costa T, Summers AM, Novaczyk MJ, Cox DW. 2005. FISH- mapping of telomeric 14q32 deletions: Search for the cause of seizures. Am J Med Genet Part A 138A:224.
10. Shirasaka Y, Ito M, Okuno T, Fujii T, Nozaki K, Mikawa H. 1992. Ring 14 chromosome with complex partial seizures. A case report. Brain Dev 14:257-260.
11. Tzoufi M, Kanioglou C, Dasaula A, Asproudis I, Tsatsoulis A, Sismani C, Patsalis P, Georgiou I, Syrrou M. 2007. Mosaic trisomy r(14) associated with Epilepsy and mental retardation. J Child Neurol 22:869-873.
12. Van Karnabeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers Jm, Hennekam RC. 2002. Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet 110:65-72.
13. Zelante L, Torricelli F, Calvano S, Mingarelli R, Dallapiccola B. 1991. Ring chromosome 14 syndrome, report of two cases, including extended evaluation of previously reported patients and review. Ann Genet 34:93-97.
14. Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Giustina ED, Frattini D, Scarano A, Neri G. 2009. The ring 14 syndrome: Clinical and. molecular definition. Am J Med Genet Part A 149A: 1116-1124.