Phenotypic map in ring 14 syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 237-

  Zollino, Marcella ^a   Orteschi, Daniela ^a   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 14; CLINICAL ARTICLE; EPILEPSY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENE MAPPING; HUMAN; LETTER; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; RETINA DISEASE; RING 14 SYNDROME; STRUCTURAL CHROMOSOME ABERRATION; VISUAL IMPAIRMENT; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q; CHROMOSOME TRANSLOCATION 10; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPTOGENESIS; GENE; PATHOGENESIS; PCNX GENE; RETINA MALFORMATION; RING CHROMOSOME; SLC8A3 GENE; SYMPTOMATOLOGY;

CHROMOSOMES, HUMAN, PAIR 14; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; RING CHROMOSOMES;

EID: 75149158008     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33169     Document Type: Letter

References (3)

1. Nucaro AL, Falchi M, Pisano T, Rossino R, Boscarelli F, Stoico G, Milia A, Montaldo C, Cianchetti C, Pruna D. in press. Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH. Am J Med Genet Part A (in press).
2. Tzoufi M, Kanioglou C, Dasoula A, Asproudis I, Tsatsoulis A, Sismani C, Patsalis PC, Georgiou I, Syrrou M. 2007. Mosaic trisomy r(14) associated with epilepsy and mental retardation. J Child Neurol 22:869-873.
3. Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G. 2009. The ring 14 syndrome: Clinical and molecular definition. Am J Med Genet Part A 149A:1116-1124.