A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
Joint Authors
Lan, Chuan-Ching
Love, Jennifer M.
Singh, Shalinder
Marquis-Nicholson, Renate
Aftimos, Salim
George, Alice M.
Love, Donald R.
Ashton, Fern
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-11-13
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare.
We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4.
Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;9)(q13.4;q34.3q34.3)pat.
Cytogenetic microarray analysis (CMA) identified a ~2.3Mb duplication of 9q34.3→qter, which was confirmed by Fluorescence in situ hybridisation (FISH).
The duplication at 9q34.3 is the smallest among the cases reported so far.
The proband exhibits similar clinical features to those previously reported cases with larger duplication events.
American Psychological Association (APA)
Singh, Shalinder& Ashton, Fern& Marquis-Nicholson, Renate& Love, Jennifer M.& Lan, Chuan-Ching& Aftimos, Salim…[et al.]. 2012. A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities. Case Reports in Pediatrics،Vol. 2012, no. 2012, pp.1-7.
https://search.emarefa.net/detail/BIM-473240
Modern Language Association (MLA)
Singh, Shalinder…[et al.]. A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities. Case Reports in Pediatrics No. 2012 (2012), pp.1-7.
https://search.emarefa.net/detail/BIM-473240
American Medical Association (AMA)
Singh, Shalinder& Ashton, Fern& Marquis-Nicholson, Renate& Love, Jennifer M.& Lan, Chuan-Ching& Aftimos, Salim…[et al.]. A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities. Case Reports in Pediatrics. 2012. Vol. 2012, no. 2012, pp.1-7.
https://search.emarefa.net/detail/BIM-473240
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-473240
