Hodge J C, Lawson-Yuen A, Stoler J M, Ligon A H
Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.
Cytogenet Genome Res. 2007;119(1-2):15-20. doi: 10.1159/000109613. Epub 2007 Dec 14.
We report a newborn male with multiple congenital anomalies including growth retardation, hypotonia, dysmorphic facies, widely-spaced nipples, micropenis, cryptorchidism, optic nerve hypoplasia, heart disease, and a striking, high-pitched cry. Chromosome analysis revealed de novo partial trisomy 11q due to a der(5)t(5;11)(p15.3;q22). Fluorescence in situ hybridization (FISH) showed loss of the 5p telomere signal on the der(5) chromosome, indicating the infant has partial monosomy 5p in addition to partial trisomy 11q. Among cases involving trisomy 11q, an unusual cry has only been documented in the presence of a der(5)t(5p;11q). This apparent dependence of the abnormal cry on monosomy 5p suggested the same genetic mechanism that occurs in Cri du chat syndrome (CDCS) may be responsible for the atypical cry in der(5)t(5p;11q) individuals. Neither a commercial CDCS probe (LSI D5S23, D5S721) nor a series of BAC clones encompassing distal regions implicated in the CDCS-associated cat-cry were deleted in our patient. These results suggest a second cry-modifying locus maps telomeric to BAC RP11-94J21 in band 5p15.33. This locus may not only cause the abnormal cry in individuals with a der(5)t(5p;11q) but could also contribute to the phenotypic variability and discordant mapping studies observed for CDCS.
我们报告了一名患有多种先天性异常的新生儿男性，包括生长发育迟缓、肌张力减退、面容畸形、乳头间距宽、小阴茎、隐睾、视神经发育不全、心脏病以及一种显著的高音调哭声。染色体分析显示，由于der(5)t(5;11)(p15.3;q22)导致的新发11q部分三体。荧光原位杂交（FISH）显示der(5)染色体上5p端粒信号缺失，表明该婴儿除了11q部分三体外，还存在5p部分单体。在涉及11q三体的病例中，仅在存在der(5)t(5p;11q)的情况下记录到异常哭声。这种异常哭声对5p单体的明显依赖性表明，与猫叫综合征（CDCS）中发生的相同遗传机制可能是der(5)t(5p;11q)个体中异常哭声的原因。我们的患者既没有缺失商业CDCS探针（LSI D5S23、D5S721），也没有缺失一系列包含与CDCS相关猫叫所涉及的远端区域的BAC克隆。这些结果表明，第二个哭声修饰基因座定位于5p15.33带中BAC RP11-94J21的端粒。该基因座不仅可能导致der(5)t(5p;11q)个体出现异常哭声，还可能导致CDCS观察到的表型变异性和不一致的定位研究。
