title: Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.
abstract: Pericentric inversion of chromosome 19 appears to be a rare abnormality with only a few families reported. As far as we are aware, none of them were ascertained because of a recombinant individual. We describe the first identified case due to an affected patient, with duplication deficiency for chromosome 19 arising from a maternal inversion confirmed by FISH and CGH. His features included prenatal growth retardation, microcephaly, dysmorphic facies, congenital heart defect, hypoplasia of corpus callosum and psychomotor delay. The identification of recombinant individuals contribute to calculate a precise risk for inv (19) carriers and to provide a more accurate genetic counselling.
authors.affiliation: Seccion de Citogenetica, Centro de Bioquimica y Genetica Clinica, Hospital universitario Virgen de la Arrixaca, El Palmar, 30120 Murcia, Spain. isabel.lopez4@carm.es
authors.forename: I
authors.initials: I
authors.lastname: López-Exposito
authors.forename: E
authors.initials: E
authors.lastname: Guillén-Navarro
authors.forename: J A
authors.initials: JA
authors.lastname: Bafallíu
authors.forename: M Carmen
authors.initials: MC
authors.lastname: Bernabé
authors.forename: A
authors.initials: A
authors.lastname: Escalona
authors.forename: C
authors.initials: C
authors.lastname: Fuster
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009035:Mothers; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000235:genetics