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August 1968

A Presumptive Y-Autosome Translocation in a Boy With Congenital Malformations

Author Affiliations

From the Children's Hospital Research Foundation and the Department of Pediatrics, College of Medicine, University of Cincinnati.

Am J Dis Child. 1968;116(2):205-210. doi:10.1001/archpedi.1968.02100020207016

ALTHOUGH a great variety of autosomal translocations have been described in man (Thompson1), little is known about the translocations between a sex chromosome and an autosome. A translocation which involves both an X chromosome and an autosome has been well documented in the mouse,2-4 but has not been well established in man, although there have been a few reports of presumptive cases.5-7 Recently Neuhäuser and Back8 reported the case of a girl with multiple malformations with a possible translocation between one of the C-group autosomes and an X chromosome; they based their interpretation on the karyotype and the deoxyribonucleic acid replication patterns.

Reports of a translocation of the Y chromosome to an autosome are even rarer than those involving the X chromosome. The cases described by Federman et al9 and van den Berghe10 are the only two in which a recognizable amount of a Y chromosome was thought to be

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