Deficiency of distal 8p--report of two cases and review of the literature.
A terminal deletion in the short arm of chromosome 8 was found in a 2.5-year-old boy: 46,XY,del(8) (p22.0) and in a 1-year-old girl: 46,XX,del(8) (p23.1) with dysmorphic craniofacial features and developmental retardation. Erythrocyte GSR activities of the boy and of his parents were within normal limits. Vitamin K dependent coagulation factors in the girl and her parents gave normal results. Clinical findings were compared with previously reported cases and suggested a recognizable syndrome.
Servizio di Genetica, Istituto per l'Infanzia, Trieste, Italy.
V
V
Pecile
M G
MG
Petroni
M C
MC
Fertz
G
G
Filippi
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D005149:Facial Expression; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014812:Vitamin K / Q000378:metabolism
D014812:Vitamin K