Multiple copy number variation in a patient with Kleefstra syndrome

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dc.contributor.authorLee T.N.
dc.contributor.authorEl Laden Rechetello H.
dc.contributor.authorDe Area Lima Junior J.B.
dc.contributor.authorCornelio J.P.F.F.
dc.contributor.authorPegoraro N.B.
dc.contributor.authorRaskin S.
dc.contributor.authorMikami L.R.
dc.date.accessioned2024-09-01T06:17:40Z
dc.date.available2024-09-01T06:17:40Z
dc.date.issued2024
dc.description.abstract© 2024 Sao Paulo Pediatric Society. All rights reserved.Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. Case description: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar crease and arachnoid cyst. The microarray-based comparative genomic hybridization (a-CGH) identified copy number variations (CNVs) in five regions: 9q34.3, 6p22.1, Yq11.223, Yp11.23, and 2q24.1. The heterozygous microdeletion in 9q34.3 involving the EHMT1 gene confirms the diagnosis of KS. Comments: The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, single palmar fold and ligament laxity), compared to other individuals with only KS genetic alteration, making the dignosis of the disease harder.
dc.description.volume42
dc.identifier.doi10.1590/1984-0462/2024/42/2022230
dc.identifier.issnNone
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/39291
dc.relation.ispartofRevista Paulista de Pediatria
dc.rightsAcesso Aberto
dc.subject.otherlanguageGenes
dc.subject.otherlanguageGenetics
dc.subject.otherlanguageNeurodevelopmental disorders
dc.titleMultiple copy number variation in a patient with Kleefstra syndrome
dc.typeArtigo
local.scopus.citations0
local.scopus.eid2-s2.0-85171812116
local.scopus.subjectChild, Preschool
local.scopus.subjectComparative Genomic Hybridization
local.scopus.subjectCysts
local.scopus.subjectDNA Copy Number Variations
local.scopus.subjectHeterozygote
local.scopus.subjectHumans
local.scopus.subjectKleefstra Syndrome
local.scopus.subjectMale
local.scopus.updated2025-04-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85171812116&origin=inward
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