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*