FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation
FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation
We report on a man with mental retardation and a complex karyotype with cells containing up to three morphologically distinct supernumerary marker chromosomes (SMCs) in most metaphases. Fluorescence in situ hybridisation studies using chromosome 15-specific probes characterised the presence of seven SMCs all derived from chromosome 15. The results suggest that the patient originally had a large inv dup(15) containing two copies of the Prader-Willi/Angelman critical region which became mitotically unstable, and by a process of dynamic mosaicism various morphologically distinct SMCs arose.
289 - 294
Cockwell, A. E.
270dbf0d-4256-4f8f-b2d5-9de8bad1c30d
Davalos, I. P.
34cea582-9e6b-44db-bcc2-453536cbc58f
Rivera, H. R.
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Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
2001
Cockwell, A. E.
270dbf0d-4256-4f8f-b2d5-9de8bad1c30d
Davalos, I. P.
34cea582-9e6b-44db-bcc2-453536cbc58f
Rivera, H. R.
4d263ad8-b928-4f99-93ec-d605909d9560
Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Cockwell, A. E., Davalos, I. P., Rivera, H. R. and Crolla, J. A.
(2001)
FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.
American Journal of Medical Genetics: Part A, 103 (4), .
(doi:10.1002/ajmg.1516).
Abstract
We report on a man with mental retardation and a complex karyotype with cells containing up to three morphologically distinct supernumerary marker chromosomes (SMCs) in most metaphases. Fluorescence in situ hybridisation studies using chromosome 15-specific probes characterised the presence of seven SMCs all derived from chromosome 15. The results suggest that the patient originally had a large inv dup(15) containing two copies of the Prader-Willi/Angelman critical region which became mitotically unstable, and by a process of dynamic mosaicism various morphologically distinct SMCs arose.
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Published date: 2001
Organisations:
Human Genetics
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Local EPrints ID: 24656
URI: http://eprints.soton.ac.uk/id/eprint/24656
PURE UUID: eacd56a5-646f-49ab-b816-7ebac37888fa
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Date deposited: 04 Apr 2006
Last modified: 15 Mar 2024 06:57
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Author:
A. E. Cockwell
Author:
I. P. Davalos
Author:
H. R. Rivera
Author:
J. A. Crolla
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