Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A, Maccagnani F, Dallapiccola B
Cattedra di Istologia ed Embriologia Generale, University of Modena, Italy.
Clin Genet. 1988 Jul;34(1):48-59. doi: 10.1111/j.1399-0004.1988.tb02615.x.
Five unrelated patients with partial trisomy 7q are described. In two of them the duplicated region was 7q21----qter and in the others 7q22----qter, 7q34----qter and 7q35----qter, respectively. Clinical features were compared with those reported in published cases. Karyotype-phenotype correlations showed a relationship between the size of the unbalanced region and the survival, and prenatal and postnatal growth. In contrast, the same proportionality was not demonstrated between the severity of dysmorphic features and the size of the duplicated region. However, cleft palate seemed associated rather characteristically with dup 7q22/31----qter.
本文描述了5例非亲缘关系的7号染色体长臂部分三体患者。其中2例的重复区域为7q21----qter，其他3例的重复区域分别为7q22----qter、7q34----qter和7q35----qter。将临床特征与已发表病例中报道的特征进行了比较。核型-表型相关性显示，不平衡区域的大小与生存以及产前和产后生长之间存在关联。相比之下，畸形特征的严重程度与重复区域的大小之间未显示出相同的比例关系。然而，腭裂似乎与dup 7q22/31----qter具有相当典型的关联。
