Human Genome Centre, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Indian J Pediatr. 2009 Jul;76(7):745-6. doi: 10.1007/s12098-009-0158-2. Epub 2009 May 27.
Complete trisomy 9 is a lethal diagnosis and most fetuses diagnosed thus die prenatally or during the early postnatal period and majority of such cases have been known to end in spontaneous abortion in the first trimester itself. One such rare survival of fetus ending in normal delivery and surviving until 20 days is reported here detailing the clinical manifestations of the child during the period of survival. The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also webbed neck, characteristic of this trisomy 9 syndrome.
完全性 9 号染色体三体是一种致命的诊断，大多数被诊断为此病的胎儿会在产前或新生儿早期死亡，而且大多数此类病例都在妊娠早期自然流产。本文报道了一例罕见的完全性 9 号染色体三体胎儿存活并分娩至 20 天的病例，详细描述了患儿存活期间的临床表现。观察到的显著临床特征包括小脸、宽囟门、突出的枕骨、小下颌、低位耳、斜视的睑裂、高拱形腭、短胸骨、手指重叠、髋关节外展受限、摇椅底足、心脏杂音，还有颈蹼，这些都是 9 号染色体三体综合征的特征。
