Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus |
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| Authors: | Palka Chiara Alfonsi Melissa Morizio Elisena Soranno Alessandra La Rovere Daniela Matarrelli Barbara Rullo Anna Lucia Zori Roberto Chiarelli Francesco Calabrese Giuseppe |
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| Affiliation: | a Department of Oral Sciences, Nano and Biotechnologies, “G. D’Annunzio” University, Via dei Vestini 31, 66100 Chieti, Italy;b Department of Obstetrics and Gynecology, “G. D’Annunzio” University, Chieti, Italy;c Department of Obstetrics and Gynecology, Vasto Hospital, Italy;d Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Florida, Gainesville, FL, USA;e Department of Pediatrics, “G. D’Annunzio” University, Chieti, Italy;f Medical Genetics, “Spirito Santo” Hospital, Pescara, Italy |
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| 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. |
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| Keywords: | Array-CGH X Y translocation Xp partial duplication Prenatal diagnosis |
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