Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus

作者：Palka Chiara^*; Alfonsi Melissa; Morizio Elisena; Soranno Alessandra; La Rovere Daniela; Matarrelli Barbara; Rullo Anna Lucia; Zori Roberto; Chiarelli Francesco; Calabrese Giuseppe

来源：European Journal of Medical Genetics, 2011, 54(3): 333-336.

DOI：10.1016/j.ejmg.2011.02.003

• Array-CGH
• X
• Y translocation
• Xp partial duplication
• Prenatal diagnosis

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.

• 出版日期2011-6