Novelli Antonio, Bernardini Laura, Salpietro Damiano Carmelo, Briuglia Silvana, Merlino Maria Valeria, Mingarelli Rita, Dallapiccola Bruno
Ospedale Casa Sollievo della Sofferenza e Istituto CSS-Mendel, Roma, Italy.
Am J Med Genet A. 2004 Jul 15;128A(2):165-9. doi: 10.1002/ajmg.a.30088.
A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter onto the deleted Yq11.22. Analysis of reported patients with disomy of region distal to Xq26 suggests that this rare anomaly, associated with failure to dosage compensate X-linked genes that are normally inactivated, when present in two copies, is causing a quite distinct phenotype. This imbalance is the aberrant by product of the recombinogenic pairing of the distal pseudoautosomal Xq-Yq region at male meiosis.
一名46,XYq的8岁男性因小头畸形、生长发育和智力迟缓、肌张力减退、生殖器发育不全及畸形而前来就诊。荧光原位杂交（FISH）分析显示，重排的Y染色体源于Xq27.3-qter向缺失的Yq11.22的不平衡易位。对报道的Xq26远端区域二体患者的分析表明，这种罕见异常与正常情况下两条X染色体拷贝中X连锁基因剂量补偿失败有关，会导致一种非常独特的表型。这种不平衡是男性减数分裂时远端假常染色体Xq-Yq区域重组配对的异常副产物。
