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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.

SUBMITTER: Leone PE

PROVIDER: S-EPMC6976307 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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

Leone Paola E PE Pérez-Villa Andy A Yumiceba Verónica V Hernández María Ángeles MÁ García-Cárdenas Jennyfer M JM Armendáriz-Castillo Isaac I Guerrero Santiago S Guevara-Ramírez Patricia P López-Cortés Andrés A Zambrano Ana Karina AK García Juan Luis JL Hernández Jesús María JM Paz-Y-Miño César C

Journal of pediatric genetics 20190916 1

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 duplicatio ...[more]

PMID: 31976149

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