Ring chromosome 14 with epilepsy and development delay [4]

Indian Pediatrics

Volumn 43, Issue 8, 2006, Pages 744-745

  Sheth, Frenny J ^a   Soni, Nilang ^a  

^a FRIGE Foundation for Research in Genetics and Endocrinology   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 14; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME DELETION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; EPILEPSY; FEMALE; HETEROZYGOSITY; HUMAN; LETTER; PRESCHOOL CHILD; RING CHROMOSOME;

AGE FACTORS; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; HUMANS; INFANT; RING CHROMOSOMES; TIME FACTORS;

EID: 33748359719     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Leshima A, Takeshita K, Yamamoto K. Ring 14 syndrome with decreased bone mineral content in two pubertal girl. Jpn J Hum Genet 1983; 28: 35-43.
2. Schiade BK, Costa T, Summers AM, Nowaezyk MJ, Cox DW. FISH mapping of telomeric 14q32 deletions: search for the cause of seizures. Am J Med Genet 2005. (E-pub ahead of print)
3. van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC. Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet 2002; 110: 65-72.
4. Wintle RF, Costa T, Hastam RH, Teshima IE, Cox DW, et al. Molecular analysis redefines three human chromosome 14 deletions. Hum Genet 1995; 95: 495-500.
5. Fryns JP, Kubien E, Kleezkowska A, Nawrocka-Kanska B, van den Berghe H. Ring chromosome 14: A distinct clinical entity. J Genet Hum 1983; 31: 367-375.