Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1981-05

AUTHORS

Catherine Turleau, J. de Grouchy, J. L. Dufier, Phuc Lè Hoang, P. H. Schmelck, R. Rappaport, Claire Nihoul-Fékété, Nicole Diebold

ABSTRACT

A 20-month-old male patient was referred because of severe growth and mental retardation, bilateral glaucoma, hypospadias, and cryptorchidism. Karyotyping revealed a de novo complex three-chromosome rearrangement as well as deletion of band 11p13:46,XY,t(4;7;15)(q212;p14;q26),del(11) (p13p14). Trabeculectomia revealed bilateral aniridia. Surgery on the genitalia revealed male pseudohermaphroditism and bilateral gonadoblastoma. The kidneys were normal. A deficiency in catalase (CAT) activity allowed the regional assignment of the CAT gene to band 11p13. More... »

PAGES

300-306

Journal

TITLE

Human Genetics

ISSUE

3

VOLUME

57

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00278949

DOI

http://dx.doi.org/10.1007/bf00278949

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024178211

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28035502


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