Schnatterly P, Bono K L, Robinow M, Wyandt H E, Kardon N, Kelly T E
Am J Hum Genet. 1984 Mar;36(2):444-51.
Nine related individuals have been identified as being trisomic for the distal part of the long arm of chromosome 15 (15q23 to 15qter). The physical characteristics, especially the facial features, of these nine cases are similar and distinctive. These include: facial asymmetry, down-slanting palpebral fissures, ptosis, prominent nose, long philtrum, down-turned mouth, midline crease in the lower lip, puffy cheeks, and micrognathia. By comparing related individuals with the same translocation, the variability due to different breakpoints can be eliminated. Clinical similarities between unrelated individuals with similar duplicated 15q material, but differing second chromosomes, suggest that the phenotype is due to the extra distal 15q chromosomal material. We conclude that distal 15q trisomy produces a clinically recognizable syndrome.
已确定9名相关个体的15号染色体长臂远端（15q23至15qter）三体性。这9例患者的身体特征，尤其是面部特征相似且独特。这些特征包括：面部不对称、睑裂向下倾斜、上睑下垂、鼻子突出、人中长、嘴巴向下弯曲、下唇中线褶皱、脸颊肿胀和小颌。通过比较具有相同易位的相关个体，可以消除因不同断点导致的变异性。具有相似重复15q物质但第二条染色体不同的无关个体之间的临床相似性表明，该表型是由于额外的远端15q染色体物质所致。我们得出结论，远端15q三体产生一种临床上可识别的综合征。
