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Two cases of del (13q) -retinoblastoma and two cases of partial trisomy due to a familial insertion

Turleau, C.; de Grouchy, J.; Chavin-Colin, F.; Despoisses, S.; Leblanc, A.

Annales de Genetique 26(3): 158-160

1983

ISSN/ISBN: 0003-3995
PMID: 6316832
Document Number: 218124
A del(13)(q13q21.1) was found in a patient with bilateral retinoblastoma and mental retardation. The father was carrier of an ins(16;13)(q12.2;q13q21.1) which also was present in several other family members, and responsible for another case of del (13q)-retinoblastoma and two cases of trisomy for the inserted segment. This second del(13q) patient was also carrier of a balanced t(11;22).

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