We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart defects, and developmental delay, but each had other congenital anomalies. Am. J. Med. Genet. 80:112-114, 1998.
|Original language||English (US)|
|Number of pages||3|
|Journal||American Journal of Medical Genetics|
|State||Published - Nov 2 1998|
- Chromosome 6q duplication
- Congenital heart defect.
- Mild mental retardation
ASJC Scopus subject areas