Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome

G. S. Pai; G. H. Thomas; P. J. Benke

doi:10.1136/jmg.18.5.392

Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome

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

Research output: Contribution to journal › Article › peer-review

Abstract

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

Original language	English (US)
Pages (from-to)	392-394
Number of pages	3
Journal	Journal of medical genetics
Volume	18
Issue number	5
DOIs	https://doi.org/10.1136/jmg.18.5.392
State	Published - 1981
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome",

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

author = "Pai, {G. S.} and Thomas, {G. H.} and Benke, {P. J.}",

year = "1981",

doi = "10.1136/jmg.18.5.392",

language = "English (US)",

volume = "18",

pages = "392--394",

journal = "Journal of medical genetics",

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AU - Pai, G. S.

AU - Thomas, G. H.

AU - Benke, P. J.

PY - 1981

Y1 - 1981

N2 - A retarded child with multiple malformations was found to have a karyotype 47,XY,del(11)(11pter→q21:),+mar(11qter→q21::?). The mitotically stable centric marker had no demonstrable C heterochromatin. Phenotype-karyotype correlation and the role of C heterochromatin in phenotypic effects are discussed.

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

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JO - Journal of medical genetics

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ER -

Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome

Abstract

ASJC Scopus subject areas

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