Kaneko K, Katabuchi H, Maruta H
Nihon Sanka Fujinka Gakkai Zasshi. 1986 Jun;38(6):940-4.
A malformed male neonate with partial trisomy 15q dist (q22----qter), because of malsegregation of a balanced translocation (7; 15) (p22; q22) in his mother, is described. Comparison of this patient with thirteen previously published cases of this trisomy reveals a pattern of common features including: peculiar craniofacial dysmorphism--facial asymmetry, antimongoloid slant, narrow or short palpebral fissures, prominent nose, long upper lip, micro or retrognathia, high arched palate, low set ears, malformed ears, protuberant occiput--, abnormal fingers and toes, short neck, mental and growth retardation, cardiopathy, respiratory distress etc.. The main clinical findings seem to be similar enough to justify the establishment of a new entity of partial trisomy 15q dist syndrome.
本文描述了一名患有15q远端部分三体性(q22----qter)的畸形男婴,其病因是母亲的平衡易位(7;15)(p22;q22)发生了错误分离。将该患者与之前发表的13例该三体性病例进行比较,发现了一系列共同特征,包括:特殊的颅面部畸形——面部不对称、反蒙古样倾斜、睑裂狭窄或短小、鼻子突出、上唇长、小颌或后缩颌、高拱腭、低位耳、耳部畸形、枕部突出——、手指和脚趾异常、颈部短、智力和生长发育迟缓、心脏病、呼吸窘迫等。主要临床发现似乎足够相似,足以证明建立一种新的15q远端部分三体综合征实体是合理的。