Deletion (13)(q13q14.3) with retinoblastoma: confirmation and extension of a recognisable pattern of clinical features in retinoblastoma patients with 13q deletion.
A girl with retinoblastoma and a del(13)(q13q14.3) is presented. This case helps to confirm and extend our previous observations regarding a recognisable facial pattern in retinoblastoma patients with 13q deletion involving 13q14 and its adjacent segments.
Motegi
T
T
Tokyo University Hospital Branch, Japan.
Ikeda
K
K
Watanabe
K
K
Yanagawa
Y
Y
Minoda
K
K
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D012175:Retinoblastoma / Q000235:genetics*