Open AccessDe Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation
Author(s) -
Paola Leone,
Andy PérezVilla,
Verónica Yumiceba,
María del Pilar Hernández,
Jennyfer M. GarcíaCárdenas,
Isaac ArmendárizCastillo,
Santiago Guerrero,
Patricia GuevaraRamírez,
Andrés LópezCortés,
Ana Karina Zambrano,
Juan Luis Garcı́a,
Jesús M. Hernández,
César PazyMiño
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1696970
Subject(s) - gene duplication , genetics , biology , trisomy , g banding , fluorescence in situ hybridization , karyotype , chromosome , microbiology and biotechnology , gene
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.