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

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 break point in 8q and two breakpoints in 11p. An interstitial se...

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Bibliographic Details
Published inEuropean journal of pediatrics Vol. 136; no. 1; p. 93
Main Authors Gödde-Salz, E, Behnke, H
Format Journal Article
LanguageEnglish
Published Germany 01.03.1981
Subjects
Adult
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, 6-12 and X
Female
Humans
Intellectual Disability - complications
Intellectual Disability - genetics
Iris - abnormalities
Karyotyping
Microcephaly - genetics
Translocation, Genetic
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Summary: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 break point 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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00441719