Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1981-03

AUTHORS

E. Gödde-Salz, H. Behnke

ABSTRACT

A mentally retarded female with aniridia, microcephaly and no other major malformations has been studied using G-banded prometaphase chromosomes. This study revealed a reciprocal translocation of chromosome 8 and chromosome 11 with one breakpoint in 8q and two breakpoints in 11p. An interstitial segment of 11p is lost. Both parents have a normal karyotype. The importance of chromosome analyses of patients with aniridia and mental retardation is discussed. More... »

PAGES

93-96

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00441719

DOI

http://dx.doi.org/10.1007/bf00441719

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1033838925

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7215394


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