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Absence of Pericentromeric Heterochromatin (9qh-) in a Patient with Bilateral Retinoblastoma

Published online by Cambridge University Press:  01 August 2014

T. A. Sivakumaran ,
S. Ghose ,
H. Kumar ,
U. Singha  and
K. Kucheria
T. A. Sivakumaran
Affiliation:
Division of Genetics, Department of Anatomy
S. Ghose
Affiliation:
Pediatric Ophthalmology Service, Dr. Rajendra Prasad Center for Ophthalmic Sciences, All India of Medical Sciences, New Delhi, India
H. Kumar
Affiliation:
Pediatric Ophthalmology Service, Dr. Rajendra Prasad Center for Ophthalmic Sciences, All India of Medical Sciences, New Delhi, India
U. Singha
Affiliation:
Pediatric Ophthalmology Service, Dr. Rajendra Prasad Center for Ophthalmic Sciences, All India of Medical Sciences, New Delhi, India
K. Kucheria*
Affiliation:
Division of Genetics, Department of Anatomy
*
Division of Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110 029, INDIAe-mail:, [email protected].

Abstract

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The polymorphisms of constitutive heterochromatin regions, present on chromosomes 1, 9, 16 and Y, are inherited in a Mendelian fashion. The C-band heteromorphism has been reported to be associated with various types of cancer. Heterochromatin is considered to play a role in protecting genome against the mutagens. Changes in the quantity and proportion of the different types of satellite DNA might increase the genetic susceptibility in people with heterochromatic variations, which in turn cause chromosome instability and predispose the individual to cancer. We report a case of bilateral retinoblastoma with complete absence of pericentromeric heterochromatin on one of the chromosomes number 9. A similar deficiency of pericentromeric heterochromatin on chromosome number 9 and 16 has been reported in a phenotypically normal individual and a Down syndrome case, respectively. This deficiency was found to be inherited from the father in all the three cases. Complete absence of pericentromeric heterochromatin of chromosome 9 is not being reported in association with cancer syndromes. Further studies are necessary to understand the role of this factor in normals and in those with cancer susceptibility, specially with retinoblastoma and the paternal origin of this deficiency.

Keywords

C-bandHeteromorphismAbsence of pericentromeric heterochromatinFamilial inheritanceRetinoblastomaPaternal origin
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 46 , Issue 4 , October 1997 , pp. 193 - 198
Copyright
Copyright © The International Society for Twin Studies 1997

References

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