Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.
The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(pter;q11.21). Silver grain analysis indicated that the human von Willebrand factor pseudogene is located on 22q,11,22-q11,23, a region relevant for several somatic and constitutional chromosomal alterations.
Patracchini
P
P
Centro di Studi Biochimici delle Patologie del Genoma Umano, Università di Ferrara, Italy.
Calzolari
E
E
Aiello
V
V
Palazzi
P
P
Banin
P
P
Marchetti
G
G
Bernardi
F
F
D002675:Child, Preschool; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D011544:Pseudogenes; D014178:Translocation, Genetic; D014960:X Chromosome; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor; D004247:DNA