Franchino C J, Beneck D, Greco M A, Wolman S R
J Med Genet. 1987 May;24(5):300-3. doi: 10.1136/jmg.24.5.300.
A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenotypic characterisation of the trisomy 6q syndrome.
本文描述了一名患有6q部分三体综合征的男婴。该患者与之前报道的12例病例具有共同特征，包括眼距增宽、软腭裂、弓形嘴、小颌畸形、短而有蹼的颈外侧、手足杵状指、并指以及生长发育迟缓。此外，还描述了较少报道的内脏异常。这些观察结果可能会扩展6q三体综合征的表型特征。
