Confirmation of mosaic trisomy 22 in an infant with failure to thrive
Author(s) -
Kavinda Dayasiri,
Deepthi De Silva,
Kumudu Weerasekara
Publication year - 2018
Publication title -
sri lanka journal of child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.153
H-Index - 6
eISSN - 2386-110X
pISSN - 1391-5452
DOI - 10.4038/sljch.v47i2.8488
Subject(s) - medical journal , sri lanka , scopus , medicine , publishing , transparency (behavior) , publication , open access publishing , library science , open access journal , family medicine , political science , medline , south asia , law , history , ethnology , computer science
Chromosome mosaicism is defined as the presence of two or more karyotypically different cell lines in an individual. These two cell lines occur as a post zygotic event but other mechanisms are also described. Mosaicism is associated with the live birth of infants with chromosome anomalies that are not detected in non-mosaic forms and the mosaicism may be present at low levels in tissues making cytogenetic confirmation difficult. In some cases, the mosaicism is confined to a single tissue adding to the complexity of diagnosis. We report a child with clinical features of mosaicism in whom the diagnosis of mosaic trisomy 22 was confirmed.
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