Distal 19q duplication.
Two brothers with a distal 19q duplication due to a maternal balanced reciprocal translocation were observed. Clinical features included intrauterine and postnatal growth retardation, microcephaly, and mental retardation with seizures. Dysmorphic facies consisted of coarse hair with a high frontal hairline, short philtrum and nose, flat nasal root, and a broad mouth with downturned commissures. Both routine G-banded and high-resolution prometaphase chromosome studies were employed in evaluation of the family. The dysmorphic features and karyotypes of the affected brothers are compared with those of the two previously reported families with 19q duplication, and a common distal-19q phenotype is suggested.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002903:Chromosomes, Human, 19-20; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D014178:Translocation, Genetic