Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome.
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.
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
J P
JP
Fryns
A
A
Kleczkowska
P
P
Decock
H
H
Van den Berghe
D000015:Abnormalities, Multiple / Q000235:genetics*; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D011596:Psychomotor Disorders / Q000235:genetics; D014314:Trisomy