A patient with an interstitial deletion of the short arm of chromosome 6.
The clinical history and subsequent progress of a child with an interstitial deletion in the short arm of chromosome 6 is described. This abnormality coupled with a reduced Hageman factor (Factor XII) led to an earlier publication which suggested that this gene was localized to the breakpoint region involved. A review of similar phenotypes from the literature is presented.
van Swaay
E
E
Juliana Children's Hospital, The Hague, The Netherlands.
Beverstock
G C
GC
van de Kamp
J J
JJ
D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005175:Factor XII Deficiency / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male