Trisomy 16p: a longitudinal profile and photo essay.
As more cases of complete or partial trisomy 16p are described, a clinical picture of these patients is emerging. A specific phenotype appears to be most consistent if the band 16p13.1-16p13.3 is present in triplicate. The hallmarks of this syndrome are microcephaly, a specific facial appearance with round facies, micrognathia, and small protruding auricles, and psychomotor as well as growth retardation. We report on a patient with partial trisomy 16p due to a maternally-inherited balanced translocation between chromosomes 2q and 16p and describe the change in phenotype over 21 years, as well as the level of development achieved.
Sommer
Annemarie
A
The Ohio State University and Children's Hospital, Columbus, Ohio 43205, USA. asommer@chi.osu.edu
Pastore
Matthew
M
Wenger
Gail
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002658:Developmental Disabilities / Q000473:pathology; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000473:pathology; D014178:Translocation, Genetic; D014314:Trisomy