title: Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype.
abstract: We describe a 4-year-old boy with partial 3q trisomy and distal 8p monosomy. The patient presented with mental retardation, dysmorphic face, congenital heart defect, brain and genital anomalies, and behavioral problems. The conventional cytogenetic analysis showed a 46,XY,add(8p) karyotype. Reverse painting and microsatellite analysis demonstrated a partial monosomy of 8p23.1 --> pter and a partial trisomy of 3q25.1 --> qter. The data suggest that the chromosomal rearrangement originated from a de novo translocation in a paternal germinal cell. The phenotype observed in our patient resulted from the combination of those defects described in the isolated dup(3q) and distal del(8p) syndromes.
authors.affiliation: Genética, Hospital Español de México, México city, México.
authors.forename: G
authors.initials: G
authors.lastname: Zafra de la Rosa
authors.forename: C A
authors.initials: CA
authors.lastname: Venegas-Vega
authors.forename: N
authors.initials: N
authors.lastname: Monroy
authors.forename: G
authors.initials: G
authors.lastname: Contreras-Bucio
authors.forename: U
authors.initials: U
authors.lastname: Friedrich
authors.forename: M
authors.initials: M
authors.lastname: Houman
authors.forename: A
authors.initials: A
authors.lastname: Saad
authors.forename: P
authors.initials: P
authors.lastname: Fernández
authors.forename: S
authors.initials: S
authors.lastname: Kofman-Alfaro
authors.forename: A
authors.initials: A
authors.lastname: Cervantes
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010641:Phenotype; D014314:Trisomy