Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members

Authors:	S. Gilgenkrantz C. Defeche S. Stehlin M. J. Gregoire

Affiliation:	(1) Laboratoire de Cytogenetique, Centre de Transfusion Sanguine de Nancy-Brabois, Avenue de Bourgogne, F-54500 Vanduvre de Nancy, France;(2) Institution J. B. Thiery, F-54320 Maxeville, France

Abstract:	Summary The cytogenetic analysis of a 12-year-old retarded boy revealed a partial proximal trisomy 13, resulting from a maternal translocation t(8;13). A familial study shows this translocation in seven persons and also a Robertsonian translocation t(13q;14q) in three sons of a t(8;13) father. A review of partial proximal trisomies 13 shows a variability in the phenotypic expression.

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