title: Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.
abstract: We report on an apparently normal 5-month-old boy with a X;Y complex rearrangement identified first on prenatal diagnosis and found on array-CGH to have a 7.6 Mb duplication of Xp22.3 chromosome and a deletion of Yq chromosome, distal to the AZFa locus. Karyotype analysis on amniotic fluid cell cultures revealed a de novo homogenous chromosome marker that we interpreted as an isochromosome Yp. FISH analysis using SRY probe revealed only one signal on the derivative Y chromosome. The final karyotype was interpreted as 46,X,der(Y)t(X;Y)(p22.31;q11.22). Translocation Xp22;Yq11 in male are very rare event and only 4 cases have been published, all showing mental retardation and malformations. Herein we discussed some possible explanation for this apparent phenotypic variability.
authors.affiliation: Department of Oral Sciences, Nano and Biotechnologies, G. D'Annunzio University, Via dei Vestini 31, 66100 Chieti, Italy. chiarapalka@libero.it
authors.forename: Chiara
authors.initials: C
authors.lastname: Palka
authors.forename: Melissa
authors.initials: M
authors.lastname: Alfonsi
authors.forename: Elisena
authors.initials: E
authors.lastname: Morizio
authors.forename: Alessandra
authors.initials: A
authors.lastname: Soranno
authors.forename: Daniela
authors.initials: D
authors.lastname: La Rovere
authors.forename: Barbara
authors.initials: B
authors.lastname: Matarrelli
authors.forename: Anna Lucia
authors.initials: AL
authors.lastname: Rullo
authors.forename: Roberto
authors.initials: R
authors.lastname: Zori
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods*; D014178:Translocation, Genetic