000170053 001__ 170053
000170053 005__ 20260316092630.0
000170053 0247_ $$2doi$$a10.1111/cge.14596
000170053 0248_ $$2sideral$$a148529
000170053 037__ $$aART-2024-148529
000170053 041__ $$aeng
000170053 100__ $$aParra, Alejandro
000170053 245__ $$aIdentification of copy‐number variants in patients with overgrowth disorders
000170053 260__ $$c2024
000170053 5203_ $$aOvergrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that the weight, height or the head circumference are above the 97th centile or 2–3 standard deviations above the mean for age, gender, and ethnic group. Several copy‐number variants (CNVs) have been associated with the development of OGS, such as the 5q35 microdeletion or the duplication of the 15q26.1‐qter, among many others. In this study, we have applied 850K SNP‐arrays to 112 patients and relatives with OGS from the Spanish OverGrowth Registry Initiative. We have identified CNVs associated with the disorder in nine individuals (8%). Subsequently, whole genome sequencing (WGS) analysis was performed in these nine samples in order to better understand these genomic imbalances. All the CNVs were detected by both techniques, settling that WGS is a useful tool for CNV detection. We have found six patients with genomic abnormalities associated with previously well‐established disorders and three patients with CNVs of unknown significance, which may be related to OGS, based on scientific literature. In this report, we describe these findings and comment on genes associated with OGS that are located within the CNV regions.
000170053 540__ $$9info:eu-repo/semantics/closedAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000170053 590__ $$a2.3$$b2024
000170053 591__ $$aGENETICS & HEREDITY$$b105 / 192 = 0.547$$c2024$$dQ3$$eT2
000170053 592__ $$a1.093$$b2024
000170053 593__ $$aGenetics (clinical)$$c2024$$dQ2
000170053 593__ $$aGenetics$$c2024$$dQ2
000170053 594__ $$a5.4$$b2024
000170053 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000170053 700__ $$aTenorio-Castano, Jair
000170053 700__ $$aNevado, Julián
000170053 700__ $$aCazalla, Mario
000170053 700__ $$aMiranda-Alcaraz, Lucía
000170053 700__ $$aGallego-Zazo, Natalia
000170053 700__ $$aSilván, Cristina
000170053 700__ $$aArias, Pedro
000170053 700__ $$aPozo-Román, Jesús
000170053 700__ $$aBallesta-Martínez, María Juliana
000170053 700__ $$aGuillén-Navarro, Encarna
000170053 700__ $$aArroyo, Ignacio
000170053 700__ $$aLotersztein, Vanesa
000170053 700__ $$aCosentino, Viviana
000170053 700__ $$aGonzález-Meneses, Antonio
000170053 700__ $$aGalán, Enrique
000170053 700__ $$aRosell, Jordi
000170053 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano$$uUniversidad de Zaragoza
000170053 700__ $$aLapunzina, Pablo
000170053 700__ $$0(orcid)0000-0003-2832-2266$$aLabarta, José Ignacio$$uUniversidad de Zaragoza
000170053 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000170053 773__ $$g106, 5 (2024), 614-624$$pClin. genet.$$tClinical genetics$$x0009-9163
000170053 8564_ $$s1509059$$uhttps://zaguan.unizar.es/record/170053/files/texto_completo.pdf$$yVersión publicada
000170053 8564_ $$s1832880$$uhttps://zaguan.unizar.es/record/170053/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000170053 909CO $$ooai:zaguan.unizar.es:170053$$particulos$$pdriver
000170053 951__ $$a2026-03-16-08:17:41
000170053 980__ $$aARTICLE