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. 1979 Dec;16(6):461–466. doi: 10.1136/jmg.16.6.461

Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.

K B Nielsen, F Egede, I Mouridsen, J Mohr
PMCID: PMC1012594  PMID: 537020

Abstract

A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subjects who were monosomic for the involved segment of chromosome 7. The karyotypes were: 46,XX, or XY,der(7)ins(13;7) (q32;q32q34). All three subjects were mentally retarded and had minor dysmorphic features. The Kidd, Colton, and Kell blood group systems were investigated, but were not informative.

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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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