[Duplication of the long arm of chromosome 3 (dup 3q) in a newborn infant whose the father is carrier of pericentric inversion of chromosome 9].
The authors report a case of a partial trisomy for the long arm of chromosome 3. The associated morphotypic anomalies are compared with the 31 cases already reported, and allow to further outline a well recognizable morphotype which has similarities with the Brachmann Cornelia de Lange Syndrome. The chromosomal mechanisms which may result in this unbalanced caryotype dup 3 q are discussed, and among them the possible role of a paternal chromosome 9 pericentric inversion, most commonly termed as a normal variant.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014314:Trisomy
D005819:Genetic Markers
Duplication du bras long du chromosome 3 (dup 3q) chez un nouveau-né dont le père est porteur d'une inversion péricentrique du chromosome 9.