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Euchromatic variant 16p+. Implications in prenatal diagnosis
Author(s) -
López Pajares I.,
Villa O.,
Salido M.,
Mori M. A.,
Gonzalez A.,
Lapunzina P.,
De Torres M. L.,
Vallcorba I.,
Palomares M.,
Fernández L.,
Delicado A.
Publication year - 2006
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1454
Subject(s) - euchromatin , genetics , biology , chromosome 16 , phenotype , gene , chromosome , heterochromatin
Background Euchromatic imbalances at the cytogenetic level are usually associated with phenotypic consequences. Among the exceptions are euchromatic variants of chromosome 16 (16p+) with normal phenotype. There is a growing list of euchromatic duplications and deletions involving both G‐positive and G‐negative bands that seem to be phenotypically neutral, but these euchromatic variants are rare. Objective The aim of this report is to describe a new familial case of euchromatic variant 16p+ and to emphasise the misinterpretation of these rare euchromatic variants particularly when ascertained at prenatal diagnosis. Methods and Results Fluorescence in situ hybridisation with clone RP11‐261A7 showed an amplified signal in the larger chromosome 16. This clone contains FLJ43855 gene, similar to sodium‐ and chloride‐dependent creatine transporter. Conclusion So, this 16p+ variant that involves amplification of pseudogenetic sequences is considered a polymorphism in normal individuals. Copyright © 2006 John Wiley & Sons, Ltd.