Arai E, Nishimura S, Tamura K, Kida M, Ikeuchi T
Department of Cytogenetics, Tokyo Medical and Dental University, Japan.
Jpn J Hum Genet. 1994 Dec;39(4):433-7. doi: 10.1007/BF01892389.
Distal deletion of chromosome 1q has been reported in nearly 30 patients, all being associated with a deletion ranging from the 1q42 or q43 band to 1qter region. Here, we describe a girl with 1q terminal deletion resulting from an unbalanced de novo translocation t(1;D or G)(q44;p11), as revealed by the presence of a satellited feature and an NOR-stained region at the tip of 1q. We suggest that most of the phenotypic abnormalities seen in patients with 1q distal deletion are attributable to the monosomy for band 1q44.
据报道，近30例患者存在1号染色体长臂远端缺失，均伴有从1q42或q43带至1qter区域的缺失。在此，我们描述了一名患有1号染色体长臂末端缺失的女孩，其缺失源于不平衡的新生易位t(1;D或G)(q44;p11)，1号染色体长臂末端出现的随体特征和核仁组织区染色区域证实了这一点。我们认为，1号染色体长臂远端缺失患者出现的大多数表型异常可归因于1q44带的单体性。
