Biederman B, Bowen P
Hum Genet. 1978 Feb 23;41(1):101-7. doi: 10.1007/BF00278876.
A girl observed from birth to age 16 months had multiple congenital anomalies including growth and developemental retardation, microcephaly (-4SD), bulbous nose, prominent lips and philtrum, esotropia, latent hypermetropia, and spasticity. Chromosome analysis showed her to be a balanced carrier of a t(8;9)(q12;q33)pat translocation. In addition, she had a de novo deletion of a distal segment of the long arm of chromosome 7. Seven previously reported cases with deletions involving 7q were reviewed and had a number of nonspecific features in common, with microcephaly of a comparable degree in one of these. Studies of the Kidd (Jk) blood groups and Hageman factor were done because of the tentative assignment of their respective loci to distal 7q. Location of the Kidd (Jk) locus on the deleted segment can be excluded on the basis of heterozygosity of the proposita for the a and b alleles. Hageman factor was not decreased, which suggests that this locus is also not on the deleted segment.
一名从出生到16个月大的女孩有多种先天性异常，包括生长发育迟缓、小头畸形（-4标准差）、球状鼻、突出的嘴唇和人中、内斜视、潜在远视以及痉挛。染色体分析显示她是t(8;9)(q12;q33)pat易位的平衡携带者。此外，她还存在7号染色体长臂远端片段的新发缺失。对7例先前报道的涉及7q缺失的病例进行了回顾，这些病例有一些共同的非特异性特征，其中1例有程度相当的小头畸形。由于分别暂定将基德（Jk）血型和哈格曼因子的基因座定位于7q远端，因此对其进行了研究。根据先证者a和b等位基因的杂合性，可以排除基德（Jk）基因座位于缺失片段上。哈格曼因子没有减少，这表明该基因座也不在缺失片段上。
