Karyotype-phenotype analysis: 9p deletion versus 10q2 duplication.
An analysis of karyotype-phenotype correlations was carried out on a male infant with 46,XY, -9, +der(9)t(9;10)(p22;q25.2)mat. Cytogenetically, the patient had a 9p deletion and a concurrent 10q2 duplication. Clinically, he manifested predominantly the features of 9p deletion syndrome. An epistasis of 9p deletion over 10q2 duplication was evident in this patient. Possible explanations for this epistatic phenomenon are discussed.
D002869:Chromosome Aberrations / Q000503:physiopathology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D008297:Male; D010641:Phenotype