title: Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis.
abstract: Craniosynostosis is defined as a premature fusion of at least one cranial suture, which can be accompanied by other findings. Of syndromic cases, 14-22% have been associated with chromosomal rearrangements. This report describes a Brazilian boy with syndromic craniosynostosis who also presented with intellectual disability, microcephaly, frontal bossing, bitemporal narrowing, short neck, syndactyly, and cardiac defects. Chromosome banding showed an apparently normal male karyotype. Subsequent chromosomal microarray analysis (CMA) using the Affymetrix CytoScan 750 K Array showed a duplication of 2.1 Mb on chromosome 17q and a deletion of 1.4 Mb on chromosome 20q. The data suggested an unbalanced translocation, which was confirmed by fluorescence in-situ hybridization analysis (FISH). While there are several reports in the literature of chromosome 17q duplication syndrome accompanied by partial monosomies of other chromosomes, this is the first case featuring partial monosomy of 20q. The patient́s phenotype is generally consistent with 17q duplication syndrome, however craniosynostosis has rarely been associated with this chromosomal anomaly.
authors.affiliation: Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade, Católica de Brasília,, Brasília, DF, Brazil.
authors.forename: Felipe
authors.initials: F
authors.lastname: Marques
authors.forename: Romina
authors.initials: R
authors.lastname: Heredia
authors.forename: Claudiner
authors.initials: C
authors.lastname: de Oliveira
authors.forename: Maria Terezinha
authors.initials: MT
authors.lastname: Cardoso
authors.forename: Juliana
authors.initials: J
authors.lastname: Mazzeu
authors.forename: Robert
authors.initials: R
authors.lastname: Pogue
mesh_terms: D002648:Child; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17; D055028:Comparative Genomic Hybridization; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D006801:Humans; D008297:Male; D009006:Monosomy; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy
keywords: ACTG1; chromosomal microarray analysis (CMA); chromosome 17 duplication; chromosome 20 deletion; craniosynostosis