Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'

Five members of a family with a balanced insertion (1;5)(q32;q11q22) are presented. The daughter of one of them shows multiple malformations and a partial trisomy for the long arms of chromosome No. 5 (5q11 to 5q22 segment) resulting from a 'aneusomie de recombinaison' in her mother. The p...

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Bibliographic Details
Published in:Journal of medical genetics 1975-12, Vol.12 (4), p.418-423
Main Authors: Jalbert, P, Jalbert, H, Sele, B, Mouriquand, C, Malka, J, Boucharlat, J, Pison, H
Format: Article
Language:English
Subjects:
Aneuploidy
Child, Preschool
Chromosome Aberrations - genetics
Chromosome Disorders
Chromosomes
Chromosomes, Human, 4-5
Female
Humans
Karyotypes
Karyotyping
Pedigree
Research Article
Trisomy
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Summary:Five members of a family with a balanced insertion (1;5)(q32;q11q22) are presented. The daughter of one of them shows multiple malformations and a partial trisomy for the long arms of chromosome No. 5 (5q11 to 5q22 segment) resulting from a 'aneusomie de recombinaison' in her mother. The propositus' karyotype is 46,XX,rec(1;5)ins (1;5)(q32;q11q22). This case is the first reported example of an insertion between two chromosomes followed by 'aneusomie de recombinaison'. It also is the first reported case of trisomy invovling the long arms of chromosome No. 5.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.12.4.418