Aphallia in a patient with 9q34 duplication syndrome: a case report

To our knowledge, this is the first case of aphallia possibly associated with a chromosomal imbalance, specifically a 9q34.11-> qter duplication.

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Publication Details

Journal
BMC Urology
Published
2025-05-22
DOI
https://doi.org/10.1186/s12894-025-01818-3
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
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article

Aphallia in a patient with 9q34 duplication syndrome: a case report

Juan Pablo Meza-Espinoza, Verónica Judith Picos-Cárdenas, José Alfredo Contreras-Gutiérrez, Rosa María González-Arreola et al.
BMC Urology
Genomic variations and chromosomal abnormalities
article

Aphallia in a patient with 9q34 duplication syndrome: a case report

Juan Pablo Meza-Espinoza, Verónica Judith Picos-Cárdenas, José Alfredo Contreras-Gutiérrez, Rosa María González-Arreola, Roberto Iván Avendaño-Gálvez, Jesús Madueña-Molina, Juan Ramón González-García, Josué Camberos-Barraza, Alejandro Camacho-Zamora, Liliana Itzel Patrón-Baro
article en

Abstract

To our knowledge, this is the first case of aphallia possibly associated with a chromosomal imbalance, specifically a 9q34.11-> qter duplication.

BMC UrologyVol. 25(1)
Mexican Social Security Institute (MX), Universidad de Guadalajara (MX), Universidad Autónoma de Sinaloa (MX), Pediatric Hospital of Sinaloa (MX), Autonomous University of Tamaulipas (MX)
Gender equality
Openalex Percentile: Top 87%
Genomic variations and chromosomal abnormalities
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