Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5). Issue 6 (December 1981)

• Record Type: Journal Article
• Authors: Gilgenkrantz, S; Dulucq, P; Bresson, J L; Gouget, A; Pernot, C; Gregoire, M J
• Is Part Of: Journal of medical genetics. Volume 18:Issue 6(1981)
• Page Start: 465
• Page End: 469
• Publication Date: 1981-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.18.6.465
• Languages: English
• ISSNs: 1468-6244

Abstract

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.