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Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features
Joint Authors
Riley, Jacquelyn D.
Stefaniuk, Catherine M.
Erenberg, Francine
Erwin, Angelika L.
Palange, Lauren
Astbury, Caroline
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-07-25
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities.
Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects.
Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis.
Family history was noncontributory.
Microarray analysis revealed a 5.37 Mb deletion of chromosome bands 3p26.1 to 3p26.3 and a 13.68 Mb duplication of 3p24.3 to 3p26.1.
FISH analysis confirmed that the duplication was inverted.
Upon literature review, only one postnatal patient and one second trimester pregnancy have been reported with this finding.
Many of our patient’s features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay.
Our patient has additional features not commonly reported in 3p deletion or duplication patients, such as aortic dilation, hemangiomas, and neutropenia.
The identification of this patient contributes to additional understanding of features associated with concurrent deletion and inverted duplication in the distal 3p chromosome.
This report may assist clinicians working with patients who have constellations of similar features or similar cytogenomic abnormalities.
American Psychological Association (APA)
Riley, Jacquelyn D.& Stefaniuk, Catherine M.& Erenberg, Francine& Erwin, Angelika L.& Palange, Lauren& Astbury, Caroline. 2019. Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1136042
Modern Language Association (MLA)
Riley, Jacquelyn D.…[et al.]. Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features. Case Reports in Genetics No. 2019 (2019), pp.1-7.
https://search.emarefa.net/detail/BIM-1136042
American Medical Association (AMA)
Riley, Jacquelyn D.& Stefaniuk, Catherine M.& Erenberg, Francine& Erwin, Angelika L.& Palange, Lauren& Astbury, Caroline. Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1136042
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136042