Interstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelination

Journal of Child Neurology

Volumn 14, Issue 11, 1999, Pages 756-758

  Ono, Jiro ^a   Kurahashi, Hiroki ^a   Okinaga, Takeshi ^a   Mano, Toshiyuki ^a   Imai, Katsumi ^a   Inui, Koji ^a   Okada, Shintaro ^a  

^a OSAKA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14Q; CLINICAL EXAMINATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MALE; MOTOR DEVELOPMENT; MYELINATION; MYOCLONUS; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0032732147     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389901401116     Document Type: Article

References (15)

1. Gilgenkranz S, Cabrol C, Laesecker C, et al: Le syndrome Dr Etude d'un nouveau cas (46, XX, 14r). Ann Genet 1971;14:23-31.
2. Ono J, Nishiike K, Imai K, et al: Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. Pediatr Neurol 1999;20:70-72.
3. Telford N, Thomson DAG, Griffiths MJ, et al: Terminal deletion (14)(q32.3): A new case. J Med Genet 1990;27:261-263.
4. Turleau C, de Grouchy J, Chavin-Colin F, et al: Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). Ann Genet 1984;27:237-240.
5. Kawamura G, Suzuki M, Segawa T, Kohno S: A case of partial monosomy of 14q. J Pediatr Pract (Jpn) 1985;48:32-34.
6. 1-antitrypsin). Hum Genet 1986;74:190-192.
7. Yen F-S, Podruch PE, Weisskoff B: A terminal deletion (14) (q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation. J Med Genet 1989;26:130-133.
8. Gorski JL, Uhlmann WR, Glover TW: A child with multiple congenital anomalies and karyotype 46, XY, del (14) (q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome. Am J Med Genet 1990;37:471-474.
9. Karnitis SA, Burns K, Sudduth KW, et al: Deletion (14) (q24.3q32.1): Evidence for a distinct clinical phenotype. Am J Med Genet 1992;44:153-157.
10. Rivera H, Ramirez-Duenas ML, Figuera LE, et al: Opposite imbalances of distal 14q in two unrelated patients. Ann Genet 1992;35:97-100.
11. Byth BC, Costa MT, Teshima IE, et al: Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. J Med Genet 1995;32:564-567.
12. Ono J, Harada K, Hasegawa T, et al: Central nervous system abnormalities in chromosome deletion at 11q23. Clin Genet 1994a;45:325-329.
13. Ono J, Harada K, Yamamoto T, et al: Delayed myelination in a patient with 18q-syndrome. Pediatr Neurol 1994b;11:64-67.
14. Wintle RF, Costa T, Haslam RHA, et al: Molecular analysis redefines three human chromosome 14 deletions. Hum Genet 1995;95:495-500.
15. Cannizzaro LA, Chen YQ, Rafi MA, Wenger DA: Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cytogenet Cell Genet 1994;66:244-245.