Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagno...
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications
About this item
Full title
Author / Creator
Rydzanicz, Małgorzata , Olszewski, Pawel , Kedra, Darek , Davies, Hanna , Filipowicz, Natalia , Bruhn‐Olszewska, Bozena , Cavalli, Marco , Szczałuba, Krzysztof , Młynek, Marlena , Machnicki, Marcin M. , Stawiński, Piotr , Kostrzewa, Grażyna , Krajewski, Paweł , Śladowski, Dariusz , Chrzanowska, Krystyna , Dumanski, Jan P. and Płoski, Rafał
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background
Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post‐zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of a pair of PDMZTs.
Methods
Dysmorphic features and delayed neuro‐motor development were observed in the...
Alternative Titles
Full title
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications
Authors, Artists and Contributors
Author / Creator
Olszewski, Pawel
Kedra, Darek
Davies, Hanna
Filipowicz, Natalia
Bruhn‐Olszewska, Bozena
Cavalli, Marco
Szczałuba, Krzysztof
Młynek, Marlena
Machnicki, Marcin M.
Stawiński, Piotr
Kostrzewa, Grażyna
Krajewski, Paweł
Śladowski, Dariusz
Chrzanowska, Krystyna
Dumanski, Jan P.
Płoski, Rafał
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_853c2803d00245c78a246f0a79689b02
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_853c2803d00245c78a246f0a79689b02
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1526
