title: Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects.
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.
authors.forename: Patrícia
authors.initials: P
authors.lastname: Trevisan
authors.affiliation: Cytogenetics Laboratory, UFCSPA, Porto Alegre, RS, Brazil.
authors.forename: Sílvia
authors.initials: S
authors.lastname: Barbosa
authors.affiliation: Graduation in Medicine, Universidade Luterana do Brasil (ULBRA), Porto Alegre, RS, Brazil.
authors.forename: Graziela
authors.initials: G
authors.lastname: Sperotto
authors.affiliation: Graduation in Medicine, Universidade Luterana do Brasil (ULBRA), Porto Alegre, RS, Brazil.
authors.forename: Caroline
authors.initials: C
authors.lastname: Costi
authors.affiliation: Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.
authors.forename: Reinaldo L
authors.initials: RL
authors.lastname: de Omena Filho
authors.affiliation: Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.
authors.forename: Alessandra P da
authors.initials: AP
authors.lastname: Silva
authors.affiliation: School of Medicine, Division of Medical Oncology, University of Colorado Denver, Denver, Colorado.
authors.forename: Marileila
authors.initials: M
authors.lastname: Varella-Garcia
authors.affiliation: Human Genetics, UFCSPA, Porto Alegre, RS, Brazil.
authors.forename: Marilu
authors.initials: M
authors.lastname: Fiegenbaum
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.|Cytogenetics Laboratory, UFCSPA, Porto Alegre, RS, Brazil.|Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.|Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brazil.
authors.forename: Rafael F M
authors.initials: RF
authors.lastname: Rosa
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.|Cytogenetics Laboratory, UFCSPA, Porto Alegre, RS, Brazil.|Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.
authors.forename: Paulo R G
authors.initials: PR
authors.lastname: Zen
mesh_terms: D058165:22q11 Deletion Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D015415:Biomarkers / Q000032:analysis; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D011237:Predictive Value of Tests; D011446:Prospective Studies; D012372:ROC Curve; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D015415:Biomarkers