Abstract
Two persons within the same family were discovered to be trisomic for the segment 7qter. However, several features differed from those described in other patients with this syndrome, for example, normal birth weight and neck size, cleft palate, and beaked nose. In addition to the phenotypic variation, there were three independently segregating autosomal translocations in the pedigree: t(1;7)(q43;q32), t(1;6) (p22.3;q14.1), and t(3;10)(q26.1;p11.21). This is a finding that, to our knowledge, has not been previously reported.
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- Bass H. N., Sparkes R. S. Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1. J Med Genet. 1979 Jun;16(3):215–218. doi: 10.1136/jmg.16.3.215. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Berger R., Derre J., Ortiz M. A. Les trisomies partielles du bras long du chromosome 7. Nouv Presse Med. 1974 Sep 7;3(29):1801–1804. [PubMed] [Google Scholar]
- Joseph A., Thomas I. M. A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility. J Med Genet. 1982 Oct;19(5):375–377. doi: 10.1136/jmg.19.5.375. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kjellman M., Laurell A. B., Löw B., Sjöholm A. G. Homozygous deficiency of C4 in a child with a lupus erythematosus syndrome. Clin Genet. 1982 Dec;22(6):331–339. doi: 10.1111/j.1399-0004.1982.tb01849.x. [DOI] [PubMed] [Google Scholar]
- Newton M. S., Cunningham C., Jacobs P. A., Price W. H., Fraser I. A. Chromosome survey of a hospital for the mentally subnormal. 2. Autosome abnormalities. Clin Genet. 1972;3(4):226–248. doi: 10.1111/j.1399-0004.1972.tb04271.x. [DOI] [PubMed] [Google Scholar]
- Schmid M., Wolf J., Nestler H., Krone W. Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation. Hum Genet. 1979 Jul 18;49(3):283–289. doi: 10.1007/BF00569348. [DOI] [PubMed] [Google Scholar]