Palka Chiara, Alfonsi Melissa, Morizio Elisena, Soranno Alessandra, La Rovere Daniela, Matarrelli Barbara, Rullo Anna Lucia, Zori Roberto, Chiarelli Francesco, Calabrese Giuseppe
Department of Oral Sciences, Nano and Biotechnologies, G. D'Annunzio University, Via dei Vestini 31, 66100 Chieti, Italy.
Eur J Med Genet. 2011 May-Jun;54(3):333-6. doi: 10.1016/j.ejmg.2011.02.003. Epub 2011 Feb 24.
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.
我们报告了一名5个月大的男婴，产前诊断时首次发现其存在X;Y复合重排，经阵列比较基因组杂交（array-CGH）检测发现Xp22.3染色体有7.6 Mb的重复，Yq染色体在AZFa位点远端有缺失。羊水细胞培养的核型分析显示有一个新生的同源染色体标记，我们将其解释为等臂染色体Yp。使用SRY探针的荧光原位杂交（FISH）分析显示，衍生Y染色体上只有一个信号。最终核型被解释为46,X,der(Y)t(X;Y)(p22.31;q11.22)。男性中Xp22;Yq11易位是非常罕见的事件，仅发表过4例，均表现为智力发育迟缓及畸形。在此我们讨论了这种明显表型变异性的一些可能解释。
