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. 1981 Dec;18(6):465–469. doi: 10.1136/jmg.18.6.465

Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5).

S Gilgenkrantz, P Dulucq, J L Bresson, A Gouget, C Pernot, M J Gregoire
PMCID: PMC1048797  PMID: 7334508

Abstract

Five members of our study family were carriers of a balanced insertion (10;5) (q22;q13;q22). One of the children had psychomotor retardation and malformations resulting from a partial trisomy of the proximal long arm of chromosome 5, having received the maternal der(10). Amniocentesis identified another case of partial proximal trisomy in a fetus of a subsequent pregnancy. This clinical and family study is compared with two other published cases of proximal trisomy 5q.

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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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