title: Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.
abstract: Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature.
authors.affiliation: Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: Fernanda T S
authors.initials: FT
authors.lastname: Bellucco
authors.forename: Sintia I
authors.initials: SI
authors.lastname: Nogueira
authors.forename: Denise M
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Marilia de A C
authors.initials: Mde A
authors.lastname: Smith
authors.forename: Claudia B
authors.initials: CB
authors.lastname: de Mello
authors.forename: Decio
authors.initials: D
authors.lastname: Brunoni
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics*; D020223:Chromosome Painting; D022202:Chromosomes, Artificial, Bacterial; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D020732:Cytogenetic Analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*