title: Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype.
abstract: A de novo tandem inverted duplication of 10p was diagnosed in a 17-week fetus. The appearance of GTG banded preparations and the results of fluorescence in situ hybridization (FISH) studies are consistent with duplication of the entire arm, including the telomere. The FISH studies also demonstrated the presence of chromosome 10 alphoid repeats at the junction between the inverted segment and the long arm, consistent with the presence of the entire long arm of the abnormal chromosome. Therefore, this is a case of pure trisomy 10p without an associated deficiency of any other chromosome segment. A comparison of the phenotype associated with pure trisomy 10p and trisomy associated with a duplication/deficiency state documented a higher frequency (of borderline significance) of clubfoot and high-arched/cleft palate in the cases of pure trisomy. The frequency of palatal anomalies was observed to be significantly higher in the cases where the breakpoint of the trisomic segment is in the most proximal band (10p11). However, other clinical manifestations were observed inconsistently, even in the cases with pure, nearly complete trisomy 10p. Therefore, a clearly defined trisomy 10p clinical syndrome could not be documented in this study.
authors.affiliation: Department of Obstetrics and Gynecology, University of Washington, Seattle 98195-7470, USA.
authors.forename: S J
authors.initials: SJ
authors.lastname: Clement
authors.forename: K A
authors.initials: KA
authors.lastname: Leppig
authors.forename: G P
authors.initials: GP
authors.lastname: Jarvik
authors.forename: R P
authors.initials: RP
authors.lastname: Kapur
authors.forename: T H
authors.initials: TH
authors.lastname: Norwood
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002879:Chromosomes, Human, Pair 10; D002972:Cleft Palate / Q000235:genetics*; D003025:Clubfoot / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy; D014314:Trisomy