RT Journal Article
SR Electronic
T1 Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 600
OP 603
DO 10.1136/jmg.35.7.600
VO 35
IS 7
A1 D de Silva
A1 D Massie
A1 J Drummond
A1 D Couzin
A1 J C Dean
YR 1998
UL http://jmg.bmj.com/content/35/7/600.abstract
AB The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome which was previously reported in a subject mosaic for a tandem duplication involving chromosome (1)(q11q25).