Asunto(s)
Cromosomas Humanos/genética , Mosaicismo , Trisomía/diagnóstico , Trisomía/genética , Adulto , Facies , Femenino , Humanos , Lactante , Recién Nacido , Cariotipificación , Masculino , Repeticiones de Microsatélite/genética , Padres , Fenotipo , EmbarazoRESUMEN
Pericentric inversions of chromosome 19 are very rare rearrangements. Only one case was shown to have resulted in duplication deficiency in the offspring. We report a familial case of pericentric inversion of chromosome 19 not detectable by standard karyotype and usual subtelomeric FISH probes. This inversion was transmitted in its balanced and in its recombinant form to the offspring. The two children carrying the recombinant chromosome 19 presented with growth and mental retardation, microcephaly, mild facial dysmorphism and clinodactyly. The recombinant chromosome 19 was characterized by FISH and array CGH. It consisted of a 400kb 19pter deletion and a 6.9Mb (19q13.33-qter) duplication. This observation supports the recombination risk of pericentric inversion of chromosome 19 and emphasizes the role of molecular cytogenetics techniques in the characterization of chromosome 19 rearrangements.