Butt A M, Mehta D, Goodeve J A, Flinter F A
Department of Paediatrics, Guy's Hospital, London, UK.
J Med Genet. 1993 May;30(5):436-7. doi: 10.1136/jmg.30.5.436.
A child is described with a previously unreported probable trisomy for a segment of the long arm of chromosome 17 responsible for some distinct clinical features. These include craniofacial and skin abnormalities, failure to thrive, partial malrotation of the gut, malabsorption, gastro-oesophageal reflux, neurodevelopmental delay, autonomic disturbance, and cardiac and CNS abnormalities. The coexistence of Klinefelter's syndrome (47,XXY) is of minor significance in relation to this child's phenotype.
一名儿童被描述为患有17号染色体长臂某一段可能的三体性，此前未见报道，该三体性导致了一些明显的临床特征。这些特征包括颅面和皮肤异常、生长发育迟缓、肠道部分旋转不良、吸收不良、胃食管反流、神经发育迟缓、自主神经功能紊乱以及心脏和中枢神经系统异常。克氏综合征（47,XXY）的并存相对于该儿童的表型来说意义不大。
