A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism [1]

Epilepsia

Volumn 46, Issue 8, 2005, Pages 1322-1324

  Striano, Pasquale ^a   Elia, Maurizio ^b   Castiglia, Lucia ^b   Galesi, Ornella ^b   Pelligra, Sabina ^b   Striano, Salvatore ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; MLLT3 PROTEIN, HUMAN; NUCLEAR PROTEIN;

ANAMNESIS; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOCAL EPILEPSY; HUMAN; LETTER; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE SUSCEPTIBILITY; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; CHILD; CHROMOSOME 4; CHROMOSOME 9; GENE TRANSLOCATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 9; EPILEPSIES, PARTIAL; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; NEUROLOGIC EXAMINATION; NUCLEAR PROTEINS; PHENOTYPE; TRANSLOCATION, GENETIC;

EID: 23944459150     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2005.64304.x     Document Type: Letter

References (8)

1. Singh R, McKinlay Gardner RJ, Crossland KM, et al. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 2002;43:127-40.
2. Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A 1986;83:2934-8.
3. Gobbi G, Genton P, Pini A, et al. Epilepsies and chromosomal disorders. In: Roger J, Bureau M, Dravet C, et al., eds. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London: John Libbey, 2002:431-55.
4. Dalla Bernardina B, Fontana E, Darra F. Myoclonic status in non-progressive encephalopathies. In: Roger J, Bureau M, Dravet C, et al., eds. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London: John Libbey, 2002:137-14.
5. Walter S, Sandig K, Hinkel GK, et al. FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. Am J Med Genet 2004;128A:364-73.
6. Sutajova M, Neukirchen U, Meinecke P, et al. Disruption of the PDGFB gene in a 1; 22 translocation patient does not cause Costello syndrome. Genomics 2004;83:883-92.
7. Spinner NB, Rand EB, Fortina P, et al. Cytologically balanced t(2; 20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies. Am J Hum Genet 1994;55:238-43.
8. Vivarelli R, Zuffardi O, Maraschio P, et al. A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20. Hum Genet 1988;79:385-8.