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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
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.
4d263ad8-b928-4f99-93ec-d605909d9560
Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
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), 289 - 294. (doi:10.1002/ajmg.1516).

Record type: Article

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

Identifiers

Local EPrints ID: 24656
URI: https://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: 17 Jul 2017 16:13

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Contributors

Author: A. E. Cockwell
Author: I. P. Davalos
Author: H. R. Rivera
Author: J. A. Crolla

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