De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation

Abstract

Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial and digital anomalies. We report a 2-year-old Ecuadorian girl with Trisomy 9p syndrome. Although her phenotype shares characteristics of Noonan syndrome, Giemsa trypsin banding technique shows there is an extra chromosomal segment on chromosome 14, and array analysis shows that it belongs to a duplication of 38 Mb of 9p13.1p24.3. Fluorescence in situ hybridization analysis detected three signals from 9p chromosome. The duplication is de novo, being another unique case of the few reported in the literature.

Keywords

Trisomy 9p syndrome - de novo duplication - cytogenetic - fluorescence in situ hybridization - mapping array

Ethics Approval and Consent for Publication

This work was approved by the Ethics and Bioethics Committee from Universidad de las Américas, with approval number 2015–0702. Written informed consent was obtained from all participants for publication of this study including case description, clinical data, and accompanying images.

Availability of Data and Materials

All data used in this study are available from the corresponding author on reasonable request.

Author's Contributions

P.E.L. and C.P.Y.M. designed the study. P.E.L. and A.P.V. wrote the manuscript. V.Y., I.A.C., and P.G.R. completed cytogenetic procedures. M.A.H. performed the FISH analysis. J.M.G.C., S.G., A.L.C., and A.K.Z. analyzed the array results. J.L.G. and J.M.H. completed the mapping array. All authors read and approved the final manuscript.

• References

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