Duplication 18p with mild influence on the phenotype.
Duplication 18p was found in a 12-year-old girl whose father carried a balanced translocation involving the same chromosome segment, t(18;21)(p11;p11). Our patient had delayed speech development, mild psychomotor retardation, epilepsy, and minor anomalies, including a low nasal bridge, anti-mongolian eye slant, low-set ears, and narrowly arched palate. These findings are compared with eight previously published cases.
Johansson
B
B
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Mertens
F
F
Palm
L
L
Englesson
I
I
Kristoffersson
U
U
D002648:Child; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D007621:Karyotyping; D005810:Multigene Family; D010641:Phenotype; D013064:Speech Disorders / Q000235:genetics; D014178:Translocation, Genetic