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Prenat Diagn. 2006 Jun;26(6):535-8.

Euchromatic variant 16p+. Implications in prenatal diagnosis.

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  • 1Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain.

Abstract

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.

PMID:
16634122
[PubMed - indexed for MEDLINE]
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