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. 1974 Jun;11(2):201–205. doi: 10.1136/jmg.11.2.201

Translocation, t(4q−;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation

Helmut G Schrott *, Sumiko Sakaguchi †, Uta Francke ‡, Luigi Luzzatti †, Philip J Fialkow **
PMCID: PMC1013119  PMID: 4135220

Abstract

The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies showed an inherited translocation, t(4q−;13q+), in several asymptomatic members of the family including the propositus' mother. This indicates that the propositus had partial trisomy for the distal one-third of the long arm of chromosome 4. Review of the literature suggests that urinary tract and genital anomalies may be a consistent feature of this partial trisomy.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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