A case of 46,XY,t(1;13) (q24;q32) with mental retardation

A 14-year-old mentally retarded boy with congenital malformations of unknown etiology was found to have a de novo apparently balanced reciprocal translocation between chromosomal arms 1q and 13q. There is only one other case where a similar translocation was observed but the breakpoints could be loc...

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Bibliographic Details
Published in:Human genetics 1977-01, Vol.37 (2), p.239-242
Main Authors: Wilbur, L, Curcuru-Giordano, F M, Krishna, S G, Kardon, N B, Jenkins, E C
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Chromosome Aberrations
Chromosomes, Human, 1-3
Chromosomes, Human, 13-15
Humans
Intellectual Disability - genetics
Karyotyping
Male
Translocation, Genetic
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Summary:A 14-year-old mentally retarded boy with congenital malformations of unknown etiology was found to have a de novo apparently balanced reciprocal translocation between chromosomal arms 1q and 13q. There is only one other case where a similar translocation was observed but the breakpoints could be localized only by regions and the individual was not mentally retarded.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00393588