Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation

American Journal of Ophthalmology

Volumn 125, Issue 3, 1998, Pages 397-399

  Dollfus, Hélène ^a   Joanny Flinois, Olivier ^a   Doco Fenzy, Martine ^a   Veyre, Lysiane ^a   Joanny Flinois, Lina ^a   Khoury, Maroun ^a   Jonveaux, Philippe ^a   Abitbol, Marc ^a   Dufier, Jean Louis ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION X; COLOBOMA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; KARYOTYPING; MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RETINA FOVEA;

EID: 0032032936     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)80157-3     Document Type: Article

References (5)

1. 1. Delleman JW, Winkelman JE. Die bedeutung der atypischen kolobome und defekte der iris für dir erkennenung des hereditären aniridie-syndroms. Klin Monatsbl Augenheilkd 1973;163:528-542.
2. 2. Gillespie FD. Aniridia, cerebellar ataxia and oligophrenia in siblings. Arch Ophthalmol 1964;73:338-341.
3. 3. François J, Lentini F, De Rouck F. Gillespie's syndrome. Ophthalmic Paediatr Genet 1983;4:29-32.
4. 4. Jordan T, Hanson I, Zaletyev D, et al. The human Pax6 gene is mutated in two patients with aniridia. Nat Genet 1992; 1:328-332.
5. 5. Glaser T, Ton C, Mueller R, et al. Absence of Pax6 gene mutations in Gillespie syndrome. Genomics 1994;19: 145-148.