A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
Joint Authors
Mandrile, Giorgia
Di Gregorio, Eleonora
Calcia, Alessandro
Brussino, Alessandro
Grosso, Enrico
Savin, Elisa
Giachino, Daniela Francesca
Brusco, Alfredo
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-11-23
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1.
Here, we report a new case with similar clinical features that we have followed from birth to 5 years old.
The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22).
Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region.
Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development.
American Psychological Association (APA)
Mandrile, Giorgia& Di Gregorio, Eleonora& Calcia, Alessandro& Brussino, Alessandro& Grosso, Enrico& Savin, Elisa…[et al.]. 2014. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1017039
Modern Language Association (MLA)
Mandrile, Giorgia…[et al.]. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation. Case Reports in Genetics No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-1017039
American Medical Association (AMA)
Mandrile, Giorgia& Di Gregorio, Eleonora& Calcia, Alessandro& Brussino, Alessandro& Grosso, Enrico& Savin, Elisa…[et al.]. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1017039
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1017039