Human Cytogenetics Case Report
Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the ‘trisomy 1q42→qter syndrome’Coccé M.C.a · Villa O.b, c · Obregon M.G.a · Salido M.b · Barreiro C.a · Solé F.b · Gallego M.S.a
aLaboratorio de Citogenética, Servicio de Genética, Hospital de Pediatría Prof. Dr. J.P. Garrahan, Buenos Aires (Argentina) bLaboratorio de Citogenética y Biología Molecular, Servicio de Patología, Hospital del Mar, Barcelona cUnitat de Genética, Departament de Ciencies Expermentals i de la Salut, Universitat Pompeu Fabra, Barcelona (Spain)
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We report on a novel case of pure partial tandem duplication 1q42q43 confirmed by fluorescence in situ hybridization (FISH). We compare the manifestations of our patient with similar cases previously reported. We conclude that the most common clinical manifestations of trisomy 1q42qter are prenatal and postnatal growth retardation, relative macrocephaly, triangular face, prominent forehead, broad nasal bridge, abnormal philtrum, micro/retrognathia, cardiac defects and mental retardation. We would like to emphasize the importance of the FISH technique in the identification of the duplicated segment.
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