J Pediatr Genet 2020; 09(01): 069-075
DOI: 10.1055/s-0039-1696970
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Paola E. Leone
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
,
Andy Pérez-Villa
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
,
Verónica Yumiceba
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
,
María Ángeles Hernández
2  Institute of Molecular and Cellular Biology of Cancer, University of Salamanca, Salamanca, Spain
3  Department of Medicine, Molecular Medicine Unit, Biomedical Research Institute of Salamanca, Salamanca, Spain
,
Jennyfer M. García-Cárdenas
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
,
Isaac Armendáriz-Castillo
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
,
Santiago Guerrero
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
,
Patricia Guevara-Ramírez
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
,
Andrés López-Cortés
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
,
Ana Karina Zambrano
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
,
Juan Luis García
2  Institute of Molecular and Cellular Biology of Cancer, University of Salamanca, Salamanca, Spain
3  Department of Medicine, Molecular Medicine Unit, Biomedical Research Institute of Salamanca, Salamanca, Spain
,
Jesús María Hernández
3  Department of Medicine, Molecular Medicine Unit, Biomedical Research Institute of Salamanca, Salamanca, Spain
4  Servicio de Hematología, Hospital Universitario de Salamanca, Universidad de Salamanca, Salamanca, Spain
,
César Paz-y-Miño
1  Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, Ecuador
› Author Affiliations
Funding Funding for this research was provided by CIGG-Universidad UTE.
Further Information

Publication History

30 January 2019

01 August 2019

Publication Date:
16 September 2019 (online)

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.

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.


Supplementary Material