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Start Over Author "G. S. Pai" Publisher bmj
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1. Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome

Author

P J Benke, George H. Thomas, and G S Pai

Subjects
Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Heterochromatin, Marker chromosome, Biology, Intellectual Disability, Genetics, Chromosomes, Human, Humans, Constitutive heterochromatin, Abnormalities, Multiple, Supernumerary, MULTIPLE MALFORMATIONS, Genetics (clinical), Infant, Karyotype, Molecular biology, Phenotype, Chromosome Banding, Genetic marker, Karyotyping, Research Article
Abstract

A retarded child with multiple malformations was found to have a karyotype 47,XY,de1(11)(11 pter leads to q21:), +mar(11 qter leads to q21::?). The mitotically stable centric marker had no demonstrable C heterochromatin. Phenotype-karyotype correlation and the role of C heterchromatin in phenotypic effects are discussed.

Published
1981

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