Chudley A E, Lowry R B, Hoar D I
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
Am J Med Genet. 1988 Dec;31(4):741-51. doi: 10.1002/ajmg.1320310404.
We describe a 3-year-old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the Prader-Willi syndrome, and is likely inherited as an X-linked recessive trait. Preliminary studies with DNA probes are consistent with an X-linked locus and permit exclusion of distal Xp and Xq regions as the site of this mutation.
我们描述了一名3岁男孩及其两名舅舅，他们患有中度至重度智力发育迟缓、身材矮小、轻度肥胖、性腺功能减退、总指嵴纹计数低，以及具有独特面容，其特征为双颞狭窄、杏仁状睑裂、鼻梁凹陷、鼻孔前倾、短且呈倒V形的上唇和大口症。该家族中另外两名有类似面部异常和发育迟缓的男性在婴儿早期和儿童中期死亡。这种明显的新疾病让人联想到普拉德-威利综合征，但又与之不同，可能作为X连锁隐性性状遗传。使用DNA探针的初步研究结果与X连锁位点一致，并排除了远端Xp和Xq区域作为该突变位点。
