Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
About this item
Full title
Author / Creator
Mulchandani, Surabhi , Bhoj, Elizabeth J. , Luo, Minjie , Powell-Hamilton, Nina , Jenny, Kim , Gripp, Karen W. , Elbracht, Miriam , Eggermann, Thomas , Turner, Claire L.S. , Temple, I. Karen , Mackay, Deborah J.G. , Dubbs, Holly , Stevenson, David A. , Slattery, Leah , Zackai, Elaine H. , Spinner, Nancy B. , Krantz, Ian D. and Conlin, Laura K.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
Maternal uniparental disomy of chromosome 20 (UPD(20)mat) has been reported in only four patients, three of whom also had mosaicism for complete or partial trisomy of chromosome 20. We sought to evaluate the clinical significance of isolated UPD(20)mat in eight individuals.
We evaluated phenotypic and genomic findings of a series of eight new pa...
Alternative Titles
Full title
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
Authors, Artists and Contributors
Author / Creator
Bhoj, Elizabeth J.
Luo, Minjie
Powell-Hamilton, Nina
Jenny, Kim
Gripp, Karen W.
Elbracht, Miriam
Eggermann, Thomas
Turner, Claire L.S.
Temple, I. Karen
Mackay, Deborah J.G.
Dubbs, Holly
Stevenson, David A.
Slattery, Leah
Zackai, Elaine H.
Spinner, Nancy B.
Krantz, Ian D.
Conlin, Laura K.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1777981726
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1777981726
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2015.103
