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. 1990 Feb;27(2):109–113. doi: 10.1136/jmg.27.2.109

Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.

D R Romain 1, H Cairney 1, D Stewart 1, L M Columbano-Green 1, M Garry 1, M I Parslow 1, R Parfitt 1, R H Smythe 1, C J Chapman 1
PMCID: PMC1016931  PMID: 2319577

Abstract

Three cases of partial trisomy 7q are described. One case had duplication of region 7q22.1----q31.2 owing to a de novo direct intra-arm intrachromosomal duplication. The other two cases, first cousins, were trisomic for 7q34----qter, resulting from recombination within the inserted segment of a dir ins(7;17)(q34;q23.1q25.3)mat. All three cases had a number of the already recorded manifestations of partial trisomy 7q, namely strabismus, low set ears, depressed nasal bridge, small nose, hypotonia, and mental retardation.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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