Apparent Opitz BBBG syndrome with a partial duplication of 5p.
We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.
Leichtman
L G
LG
Department of Pediatrics, Eastern Virginia Medical School, Norfolk 23501.
Werner
A
A
Bass
W T
WT
Smith
D
D
Brothman
A R
AR
D000015:Abnormalities, Multiple / Q000235:genetics*; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities; D008297:Male; D013577:Syndrome; D014314:Trisomy