Familial retinoblastoma (mother and son) with 13q14 deletion |
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Authors: | Yoshimitsu Fukushima Yoshikazu Kuroki Taizo Ito Ikuko Kondo Itsuro Nishigaki |
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Affiliation: | (1) Division of Medical Genetics, Kanagawa Children's Medical Center, 232 Yokohama, Japan;(2) Division of Ophthalmology, Kanagawa Children's Medical Center, 232 Yokohama, Japan;(3) Department of Human Genetics, Institute of Basic Medical Sciences, The University of Tsukuba, 305 Ibaraki-ken, Japan;(4) Department of Internal Medicine, Kohoku General Hospital, 529-04 Shiga-ken, Japan;(5) Present address: Department of Human Genetics, Roswell Park Memorial Institute, 666 Elm Street, 14263 Buffalo, NY, USA |
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Abstract: | Summary We present here the first familial cases (a mother and son) of dominantly inherited retinoblastoma with a 13q14 deletion [46,XY or XX,del(13)(q14.1q21.2)]. Their esterase D activities in red blood cells were as low as 50% of the normal control and the haplotype of esterase D was a type 1-0 in the mother and a type 2-0 in the son. They had peculiar facies characterized by a high forehead, low and broad nasal root, a short and bulbous nose, a long philtrum, and open mouth with a thin upper lip, and prominent earlobes. Chromosome and esterase D analysis should be performed in patients with retinoblastoma even if retinoblastoma seems to be transmitted through an autosomal dominant inheritance. This family indicates that one of the causes of dominantly inherited retinoblastoma is a chromosome deletion of part of the 13q14 band whether it is detectable by chromosome analysis or not. |
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