[De novo del (13) (q31.1----qter) in a girl. Effect of gene dosage on blood coagulation factors VII and X].
Partial deletions of chromosome 13 are heterogeneous. The authors describe a girl with a large terminal deletion.
Battin
J
J
Centre de Génétique, Maternité Pellegrin, Bordeaux.
Serville
F
F
Mullon
M H
MH
Mateille
N
N
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005167:Factor VII / Q000235:genetics*; D005170:Factor X / Q000235:genetics*; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D010808:Physical Examination
D005167:Factor VII; D005170:Factor X
Del (13) (q31.1----qter) de novo chez une fille. Effet de dosage génique pour les facteurs VII et X de la coagulation.