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

S Gilgenkrantz; C Defeche; S Stehlin; M J Gregoire

doi:10.1007/BF00282833

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

Hum Genet. 1981;58(4):436-40. doi: 10.1007/BF00282833.

Authors

S Gilgenkrantz, C Defeche, S Stehlin, M J Gregoire

PMID: 7327568
DOI: 10.1007/BF00282833

Abstract

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.

Publication types

Case Reports

MeSH terms

Child
Chromosomes, Human, 13-15 / ultrastructure*
Chromosomes, Human, 6-12 and X / ultrastructure
Epilepsy / genetics
Heart Defects, Congenital / genetics
Humans
Intellectual Disability / genetics
Male
Pedigree
Syndrome
Translocation, Genetic
Trisomy*