Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
J Med Genet. 1997 Sep;34(9):783-6. doi: 10.1136/jmg.34.9.783.
An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation. On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate, low set and posteriorly rotated ears, a small mandible, a short neck with a low hair line, and eye malformations. High resolution chromosome analysis identified a de novo direct duplication of the 2p21.00-->p24.2 region. The phenotype of de novo partial trisomy 2p is discussed.
一名18个月大的女孩因畸形特征、精神运动发育迟缓和生长发育迟缓被转诊至我院。体格检查发现，她有小头畸形、囟门未闭、前额突出、枕部扁平、眼距增宽、眉毛稀疏、鼻梁低陷的小鼻子、人中隆起、上唇薄、高拱腭、耳朵低位且向后旋转、小下颌、发际线低的短颈以及眼部畸形。高分辨率染色体分析确定了2p21.00→p24.2区域的新发直接重复。本文讨论了2p部分三体综合征的新发表型。
