Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX, -15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
R S
RS
Houlston
R M
RM
Renshaw
R S
RS
James
R
R
Ironton
I K
IK
Temple
D000015:Abnormalities, Multiple / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D004204:Joint Dislocations / Q000235:genetics; D007621:Karyotyping; D007717:Knee / Q000002:abnormalities; D005810:Multigene Family; D010375:Pedigree; D016133:Polymerase Chain Reaction