Article
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.
Clinical genetics - 1 May 2026
Tenorio-Castano Jair, Feito Marta, de Lucas Raúl, Sendagorta Elena, Gómez-Fernández Cristina, Parra Alejandro, Vallespin Elena, Gallego-Zazo Natalia, Cazalla Mario, Jiménez-Estrada Juan A, Miranda-Alcaraz Lucia, Mora-Gómez Mónica, Rodríguez-Canó Manuel Jesús, Vázquez-Amell Valeria, Ramos Sergio, Valle Tomás, Mansilla Elena, Santiago Fe García, Galán-Gómez Enrique, Calpena Eduardo, Ruíz-Pérez Víctor L, Nevado Julián, Lapunzina Pablo
Abstract excerpt
We describe three unrelated individuals with congenital generalized hypertrichosis with gingival hyperplasia (CGHGH), each carrying a distinct structural rearrangement (duplication, deletion, inversion) at 17q24.2-q24.3 identified by CMA and WGS. Despite differences in the type of rearrangement, all three patients seem to exhibit alterations affecting the genomic architecture of a cluster of genes, particularly...
Topics
Join the communities discussing this publication.