Summary
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 unbalancedde 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.
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Arai, E., Nishimura, S., Tamura, K. et al. Chromosome 1q terminal deletion resulting fromde novo translocation with an acrocentric chromosome. Jap J Human Genet 39, 433–437 (1994). https://doi.org/10.1007/BF01892389
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DOI: https://doi.org/10.1007/BF01892389
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