title: Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation.
abstract: We report a patient with duplication of 9pter-q22 combined with duplication of 16q22-qter. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation (46,XX,t[9;16;21]). This newborn had intrauterine growth retardation and microcephaly, the characteristic recognizable pattern of trisomy 9p, cerebellar hypoplasia, a porencephalic cyst in the parieto-occipital region, and rocker-bottom feet. We compare the clinical features with another previously described case of duplication of an identical 9p segment combined with distal 16q duplication of a similar, but not identical segment, as well as with cases with duplication of either one of the two segments.
authors.affiliation: Department of Genetics, School of Medicine of Ribeirão Preto, São Paulo University, Ribeirão Preto, São Paulo, Brazil.
authors.forename: Adriana
authors.initials: A
authors.lastname: Piram
authors.forename: Daniela
authors.initials: D
authors.lastname: Ortolan
authors.forename: Luis Cesar
authors.initials: LC
authors.lastname: Peres
authors.forename: João Monteiro
authors.initials: JM
authors.lastname: Pina-Neto
authors.forename: Mariluce
authors.initials: M
authors.lastname: Riegel
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy