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Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome

Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome
Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome
Maternal uniparental disomy for chromosome 14 causes a recognizable phenotype that has a number of consistent features, irrespective of the underlying chromosome abnormality. To illustrate this, we describe a patient with a 46,XX karyotype whose short stature, hypotonia, feeding problems, truncal obesity, early puberty, learning difficulties, and craniofacial characteristics led to a diagnosis of maternal (mat) UPD(14). No evidence is available to indicate how common mat UPD(14) in patients with a normal karyotype might be. Because of the similarity between Prader-Willi syndrome (PWS) and the mat UPD(14) phenotype in childhood, we systematically tested samples from 35 patients with normal karyotypes and an unexplained PWS-like phenotype referred to the Wessex Genetics Service. We sought to address the practical question should laboratories carry out tests for mat UPD(14) on all samples received for PWS testing when PWS testing gives negative results? None of the samples tested showed evidence of mat UPD(14). Routine screening of DNA from patients with possible PWS cannot be recommended on this basis.
1552-4825
21 - 25
Cox, H.
e589d438-83bb-4533-accb-69308d15b786
Bullman, H.
75ccf2b2-5a55-4b89-be72-19b43683aaf8
Temple, I. K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Cox, H.
e589d438-83bb-4533-accb-69308d15b786
Bullman, H.
75ccf2b2-5a55-4b89-be72-19b43683aaf8
Temple, I. K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226

Cox, H., Bullman, H. and Temple, I. K. (2004) Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. American Journal of Medical Genetics: Part A, 127A (1), 21 - 25. (doi:10.1002/ajmg.a.20611).

Record type: Article

Abstract

Maternal uniparental disomy for chromosome 14 causes a recognizable phenotype that has a number of consistent features, irrespective of the underlying chromosome abnormality. To illustrate this, we describe a patient with a 46,XX karyotype whose short stature, hypotonia, feeding problems, truncal obesity, early puberty, learning difficulties, and craniofacial characteristics led to a diagnosis of maternal (mat) UPD(14). No evidence is available to indicate how common mat UPD(14) in patients with a normal karyotype might be. Because of the similarity between Prader-Willi syndrome (PWS) and the mat UPD(14) phenotype in childhood, we systematically tested samples from 35 patients with normal karyotypes and an unexplained PWS-like phenotype referred to the Wessex Genetics Service. We sought to address the practical question should laboratories carry out tests for mat UPD(14) on all samples received for PWS testing when PWS testing gives negative results? None of the samples tested showed evidence of mat UPD(14). Routine screening of DNA from patients with possible PWS cannot be recommended on this basis.

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Published date: 2004

Identifiers

Local EPrints ID: 24665
URI: https://eprints.soton.ac.uk/id/eprint/24665
ISSN: 1552-4825
PURE UUID: 2829e9d9-968f-4fac-87d2-a63155688d3e
ORCID for I. K. Temple: ORCID iD orcid.org/0000-0002-6045-1781

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Date deposited: 04 Apr 2006
Last modified: 20 Jul 2019 01:10

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Contributors

Author: H. Cox
Author: H. Bullman
Author: I. K. Temple ORCID iD

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