Encontrados 2 documentos, a visualizar página 1 de 1
Array-CGH testing in spontaneous abortions with normal karyotypes
Borovik,Cleide L.; Perez,Ana Beatriz A.; Silva,Luciana R.J. da; Krepischi-Santos,Ana Cristina V.; Costa,Silvia S.; Rosenberg,CarlaIn about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short- and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytog...
Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Mazzeu,Juliana F.; Krepischi-Santos,Ana Cristina; Rosenberg,Carla; Lourenço,Charles M.; Lezirovitz,Karina; Szuhai,Karoly; Martelli,Lúcia R.Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented...