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Persistent Mosaicism for 12p DuplicationTriplication Chromosome Structural Abnormality in Peripheral Blood
Joint Authors
Conlin, Laura K.
Shackelford, Amy L.
Wenger, Sharon L.
Spinner, Nancy B.
Hummel, Marybeth
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-09-15
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome.
A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was mosaic for both a normal karyotype and a cell line with 12p duplication/triplication in 25 percent of metaphase cells.
Utilization of fluorescence in situ hybridization (FISH) identified three copies of probes from the end of the short arm of chromosome 12 (TEL(12p13) locus and the subtelomere (12p terminal)) on the structurally abnormal chromosome 12.
Genome-wide SNP array analysis revealed that the regions of duplication and triplication were of maternal origin.
The abnormal cell line in our patient was present at 25 percent at six months and 19 months of age in both metaphase and interphase cells from peripheral blood, where typically the isochromosome 12p is absent in the newborn.
This may suggest that the gene(s) resulting in a growth disadvantage of abnormal cells in peripheral blood of patients with tetrasomy 12p may not have the same influence when present in only three copies.
American Psychological Association (APA)
Shackelford, Amy L.& Conlin, Laura K.& Hummel, Marybeth& Spinner, Nancy B.& Wenger, Sharon L.. 2013. Persistent Mosaicism for 12p DuplicationTriplication Chromosome Structural Abnormality in Peripheral Blood. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-503869
Modern Language Association (MLA)
Shackelford, Amy L.…[et al.]. Persistent Mosaicism for 12p DuplicationTriplication Chromosome Structural Abnormality in Peripheral Blood. Case Reports in Genetics No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-503869
American Medical Association (AMA)
Shackelford, Amy L.& Conlin, Laura K.& Hummel, Marybeth& Spinner, Nancy B.& Wenger, Sharon L.. Persistent Mosaicism for 12p DuplicationTriplication Chromosome Structural Abnormality in Peripheral Blood. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-503869
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-503869