Absence of predictable phenotypic expression in proximal 15q duplications.
We describe ten individuals with an insertional duplication 15q12----q13. Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent.
Ludowese
C J
CJ
Department of Medical Genetics, University of Wisconsin-Madison.
Thompson
K J
KJ
Sekhon
G S
GS
Pauli
R M
RM
D000328:Adult; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000235:genetics*; D016254:Mutagenesis, Insertional / Q000235:genetics*; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics