Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome

J P Fryns; A Kleczkowska; P Decock; H Van den Berghe

Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome

Ann Genet. 1990;33(1):46-8.

Authors

J P Fryns¹, A Kleczkowska, P Decock, H Van den Berghe

Affiliation

¹ Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.

PMID: 2195981

Abstract

In this report we present a 3-year-old girl with partial trisomy of the long arm of chromosome 16 due to a direct duplication 16q11.1----q13 (karyotype: 46, XX, dir dup(16) (pter----cen----q11.1----q13::q11.1----q13::q13----qter]. She presented moderate mental retardation and severe hyperkinetic behaviour. Slight dysmorphic stigmata but no internal anomalies were found.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / genetics*
Attention Deficit Disorder with Hyperactivity / genetics*
Child, Preschool
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosomes, Human, Pair 16 / ultrastructure*
Face / abnormalities*
Female
Humans
Psychomotor Disorders / genetics
Trisomy*