García-Cruz D, Rivera H, Barajas L O, Jiménez-Sáinz M, Nazará Z, Sánchez-Corona J, Durón-Huerta H, García-Ochoa C, Cantú J M
Ann Genet. 1985;28(4):231-4.
A 16 year-old boy with monosomy 20p was studied. The clinical and radiological data compared with those from the three previously reported cases, permit the delineation of a distinct syndrome of low birthweight, flat face, low nasal bridge, long philtrum, short neck, small overfolded ears, chest deformity, kyphoscoliosis, congenital heart defect, hypoplastic or absent ribs and rachischisis (butterfly-shaped vertebral bodies). The critical chromosome segment causing this syndrome is tentatively defined as 20p13.
对一名患有20号染色体短臂单体综合征的16岁男孩进行了研究。将该男孩的临床和放射学数据与之前报道的3例病例的数据进行比较后发现，这一综合征具有低出生体重、面部扁平、鼻梁低、人中长、颈部短、耳朵小且折叠、胸部畸形、脊柱侧凸、先天性心脏缺陷、肋骨发育不全或缺失以及脊柱裂（蝴蝶形椎体）等特征。初步确定导致该综合征的关键染色体片段为20p13。
