Duplication of 16q and deletion of 15q

W. L. Nyhan, J. Mascarello, B. Barshop, D. Doroski, K. Hirschhorn

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


A patient with distal arthrogryposis, congenital dislocations of the hips, a prominent forehead, epicanthal folds, thin lips, and a poorly defined philtrum was found to have a deletion of 15q and a duplication of 16q. Her mother, maternal grandmother, and great grandmother had a balanced t(15q-, 16q+). The gene for adenine phosphoribosyl transferase was assignable to the 16q22 → 16qter area that was duplicated.

Original languageEnglish
Pages (from-to)183-186
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - 1989
Externally publishedYes


Dive into the research topics of 'Duplication of 16q and deletion of 15q'. Together they form a unique fingerprint.

Cite this