Duane's syndrome and 22 marker chromosome: A possible cat-eye syndrome [2]

Acta Paediatrica, International Journal of Paediatrics

Volumn 95, Issue 11, 2006, Pages 1510-1511

  Gómez Lado, Carmen ^a   Eirís, Jesús ^a   Martínez Yriarte, José Manuel ^a   Blanco, Oscar ^a   Castro Gago, Manuel ^a  

^a University Hospital of Santiago de Compostela   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CAT EYE SYNDROME; CHROMOSOME ANALYSIS; CHROMOSOME MARKER; CLINICAL FEATURE; DISEASE ASSOCIATION; DUANE RETRACTION SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; LETTER; MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; DUANE RETRACTION SYNDROME; EAR, EXTERNAL; FEMALE; GENETIC MARKERS; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NOSE; PHENOTYPE;

EID: 33750411635     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1080/08035250600622826     Document Type: Letter

References (4)

1. Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR. A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker (22) chromosomes. Am J Med Genet 1997;72:440-7.
2. Ing PS, Lubinsky MS, Smith SD, Golden E, Sanger WG, Duncan AMV. Cat-eye syndrome with different marker chromosomes in a mother and daughter. Am J Med Genet 1987;26: 621-8.
3. Liehr T, Pfeiffer RA, Trautmann U. Typical partial cat-eye syndrome: identification of the marker chromosome by FISH. Clin Genet 1992;42:91-6.
4. Berends MJW, tan-Sindhunata G, Leegte B, Van Essen AJ. Phenotypic variability of cat-eye syndrome. Genet Couns 2001; 12:23-34.