25 Mb deletion of 13q13.3→q21.31 in a patient without retinoblastoma

European Journal of Medical Genetics

Volumn 48, Issue 3, 2005, Pages 363-366

  Thienpont, Bernard ^a   Vermeesch, Joris R ^a   Fryns, Jean Pierre ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Array CGH; Deeply set eyes; Deletion 13q14; Long philtrum; Maxillary hypoplasia; Post natal growth retardation; Retinoblastoma

Indexed keywords

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME DELETION 13; CLINICAL FEATURE; GROWTH RETARDATION; HUMAN; LABORATORY TEST; MALE; RETINOBLASTOMA;

ADOLESCENT; ANXIETY DISORDERS; CHROMOSOMAL INSTABILITY; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; CRANIOFACIAL ABNORMALITIES; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; RETINAL NEOPLASMS; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN; SHYNESS; SYNDROME;

EID: 25144456893     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.05.008     Document Type: Article

References (5)

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3. A.G. Knudson Jr. Mutation and cancer: statistical study of retinoblastoma Proc. Natl. Acad. Sci. USA 68 1971 820 823
4. M. Serena-Lungarotti, A. Calabro, G. Mariotti, P.P. Mastroiacovo, S. Provenzano, and B. Dallapiccola Interstitial deletion 13q syndromes: a report on two unrelated patients Hum. Genet. 52 1979 269 274
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