The characteristic phenotype of distal 9q3 trisomy is due to duplication of band 9q32.
In this report we describe a 6-month-old female child with inverted duplication of bands 9q32-9q33. The phenotypic findings are identical to the clinical syndrome previously reported to be associated with 9q31-9q32 duplication. The findings in the present child indicate that the minimal segment of overlap in this partial trisomy syndrome is 9q32.
Kleczkowska
A
A
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Lemay
P
P
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002899:Chromosomes, Human, Pair 9; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy