Familial partial trisomy 5p resulting from segregation of an insertional translocation

K H Gustavson; P O Lundberg; P Nicol

doi:10.1111/j.1399-0004.1988.tb03472.x

Familial partial trisomy 5p resulting from segregation of an insertional translocation

Clin Genet. 1988 Jun;33(6):404-9. doi: 10.1111/j.1399-0004.1988.tb03472.x.

Authors

K H Gustavson¹, P O Lundberg, P Nicol

Affiliation

¹ Department of Clinical Genetics, Academic Hospital, Uppsala, Sweden.

PMID: 3168312
DOI: 10.1111/j.1399-0004.1988.tb03472.x

Abstract

A case of duplication of segment p13-p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalies.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Child
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 5*
Female
Humans
Intellectual Disability / genetics
Karyotyping
Male
Middle Aged
Pedigree
Translocation, Genetic*
Trisomy*