Chromosome 21 ring (r21) and epilepsy [4];Cromosomopatía con anillación del 21 (r21) y epilepsia

Anales de Pediatria

Volumn 60, Issue 4, 2004, Pages 379-381

  Pardal Fernandez J M ^a   Jerez Garcia P ^a   Carrascosa Romero, M C ^a   Giner, Marco ^a  

^a HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CLINICAL FEATURE; ELECTROENCEPHALOGRAM; EPILEPSY; FOCAL EPILEPSY; GENERALIZED EPILEPSY; GRAND MAL EPILEPSY; HUMAN; LETTER; MALE; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; RARE DISEASE; RING CHROMOSOME; RING CHROMOSOME 21;

EID: 2442644083     PISSN: 16954033     EISSN: None     Source Type: Journal    
DOI: 10.1016/s1695-4033(04)78290-9     Document Type: Letter

References (7)

1. Aronson DC, Jansweijer MCE, Hoovers JMN, Barth PG. A male infant with holoprosencephaly associated with ring chromosome 21. Clin Genet 1987;31:48-52.
2. Kleczkowska A, Fryns JP. Ring chromosome 21 in a normal female. Ann Genet 1984;27:126-8.
3. Huret JL, Leonard C, Kanoui V. Ring chromosome in a phenotypically normal but infertile man. Clin Genet 1985;28:541-5.
4. Ohga S, Nakao F, Narazaki O, Aoki T, Kamesaki K, Hara T. Hypogammaglobulinaemia in a patient with ring chromosome 21. Arch Dis Child 1997;77:252-5.
5. Schmid W, Tenconi R, Baccichetti C, Caudin D, Schinzel A. Ring chromosome 21 in phenotypically apparently normal persons: Reports of two families from Switzerland and Italy. Am J Med Genet 1983;16:323-9.
6. Demyer W, Zeman W, Palmer CG. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 1964;34:256-63.
7. Niedermeyer E, Lopes F. Electroencephalography. Basic principles, clinical applications and related fields. 3rd ed. Baltimore: Williams & Wilkins, 1993; p. 510-5.