A Rare Chromosome 3 Imbalance and Its Clinical Implications
Joint Authors
Payne, Emilie
Sims, Karen
Mazzaschi, Roberto L. P.
Hayes, Ian
George, Alice M.
Love, Donald R.
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-10-11
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
The duplication of chromosome 3q is a rare disorder with varying chromosomal breakpoints and consequently symptoms.
Even rarer is the unbalanced outcome from a parental inv(3) resulting in duplicated 3q and a deletion of 3p.
Molecular karyotyping should aid in precisely determining the length and breakpoints of the 3q+/3p− so as to better understand a child’s future development and needs.
We report a case of an infant male with a 57.5 Mb duplication from 3q23-qter.
This patient also has an accompanying 1.7 Mb deletion of 3p26.3.
The duplicated segment in this patient encompasses the known critical region of 3q26.3-q27, which is implicated in the previously reported 3q dup syndrome; however, the accompanying 3p26.3 deletion is smaller than the previously reported cases.
The clinical phenotype of this patient relates to previously reported cases of 3q+ that may suggest that the accompanying 1.7 Mb heterozygous deletion is not clinically relevant.
Taken together, our data has refined the location and extent of the chromosome 3 imbalance, which will aid in better understanding the molecular underpinning of the 3q syndrome.
American Psychological Association (APA)
Sims, Karen& Mazzaschi, Roberto L. P.& Payne, Emilie& Hayes, Ian& Love, Donald R.& George, Alice M.. 2012. A Rare Chromosome 3 Imbalance and Its Clinical Implications. Case Reports in Pediatrics،Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-502904
Modern Language Association (MLA)
Sims, Karen…[et al.]. A Rare Chromosome 3 Imbalance and Its Clinical Implications. Case Reports in Pediatrics No. 2012 (2012), pp.1-5.
https://search.emarefa.net/detail/BIM-502904
American Medical Association (AMA)
Sims, Karen& Mazzaschi, Roberto L. P.& Payne, Emilie& Hayes, Ian& Love, Donald R.& George, Alice M.. A Rare Chromosome 3 Imbalance and Its Clinical Implications. Case Reports in Pediatrics. 2012. Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-502904
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-502904