Lurie I W, Novikova I V, Tarletskaya O A, Lazarevich A A, Gromyko O A
Genet Couns. 2016;27(2):177-86.
We present a fetus with typical manifestations of distal monosomy 13q (oligodactyly, heart defect, anal atresia, hypoplastic kidneys) and der( 13)t( 1 ; 13)(q42;q21)pat. He also had exencephaly which at this developmental stage is an embryological precursor of anencephaly. Detailed analysis of neural tube defects (NTD) in publications about distal monosomy 13q showed that most defects affect cranial aspect of the neural tube (anencephaly, exencephaly, encephaloceles) with a relative small proportion of spina bifida. There are strong evidences that the gene(s) responsible for the origin of NTD in distal monosomy 13q has to be located within 13q33q34 segments. However, our analysis showed that NTD are much more common for the patients (fetuses) having larger deletions (with breakpoints at 13q22 or more proximal). These data suggest that the 13q22 segment includes a regulatory element somehow controlling function of the "distal" NTD-related gene(s).
我们报告了一名患有典型13q末端单体综合征表现（多指畸形、心脏缺陷、肛门闭锁、肾发育不全）以及der(13)t(1;13)(q42;q21)pat的胎儿。他还患有露脑畸形，在这个发育阶段，露脑畸形是无脑畸形的胚胎学前驱。对有关13q末端单体综合征的出版物中神经管缺陷（NTD）的详细分析表明，大多数缺陷影响神经管的颅部（无脑畸形、露脑畸形、脑膨出），脊柱裂的比例相对较小。有强有力的证据表明，导致13q末端单体综合征中NTD起源的基因必须位于13q33 - q34片段内。然而，我们的分析表明，对于具有较大缺失（断点在13q22或更靠近近端）的患者（胎儿），NTD更为常见。这些数据表明，13q22片段包含某种调控元件，以某种方式控制“远端”NTD相关基因的功能。
