title: Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up.
abstract: This paper describes two patients with partial trisomy 9p and partial trisomy 14q due to 3:1 segregation from de novo maternal reciprocal translocations. The breakpoints are different from previously described 9;14 translocations and their 3:1 segregation products. The clinical phenotype of both cases is compatible with the partial trisomy 9p syndrome. We present the follow-up of both patients from birth up to age 7 years. Partial trisomy 9p is a frequently described chromosome abnormality. This does not appear to be related to a breakage sensitive locus on chromosome 9p, since the trisomic fragments of the published cases are heterogeneous. In the two cases described here, GTG-banded karyotyping suggested that the 9p breakpoints were similar; DNA marker analysis, however, showed them to be different. Such DNA studies will be necessary to define the genotype-phenotype relation in partial trisomy 9p syndrome.
authors.affiliation: Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands.
authors.forename: Annemieke S
authors.initials: AS
authors.lastname: Littooij
authors.forename: Ron
authors.initials: R
authors.lastname: Hochstenbach
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Sinke
authors.forename: Peter
authors.initials: P
authors.lastname: van Tintelen
authors.forename: Jacques C
authors.initials: JC
authors.lastname: Giltay
mesh_terms: D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D018895:Microsatellite Repeats; D014178:Translocation, Genetic; D014314:Trisomy